- Achalasia addisonianism alacrimia syndrome (AAAS)
- Achalasia addisonianism alacrimia syndrome (AAAS)
- Achondroplasia (FGFR3)
- Achromatopsia type 2 (CNGA3)
- Achromatopsia type 3 (CNGB3)
- Achromatopsia type 4 (GNAT2)
- Acrocallosal syndrome (KIF7)
- Acrodermatitis enteropathica (SLC39A4)
- Acrodysostosis 2 (PDE4D)
- Acrofacial dysostosis 1, Nager type (SF3B4)
- Acute myeloid leukemia (FLT3)
- Acute myeloid leukemia (RUNX1)
- Acyl-CoA peroxisomal oxidase deficiency (ACOX1)
- Acyl-CoA, medium-chain, dehydrogenase deficiency (ACADM)
- Acyl-CoA, multiple, dehydrogenase deficiency (ETFA)
- Acyl-CoA, multiple, dehydrogenase deficiency (ETFB)
- Acyl-CoA, multiple, dehydrogenase deficiency (ETFDH)
- Acyl-CoA, short-chain, dehydrogenase deficiency (ACADS)
- Acyl-CoA, very long-chain, dehydrogenase deficiency (ACADVL)
- Adams-Oliver syndrome type 1 (ARHGAP31)
- Adams-Oliver syndrome type 2 (DOCK6)
- Adenomatous polyposis of the colon (APC)
- Adrenal hyperplasia congenital due to cytochrome P450 oxidoreductase deficiency (POR)
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
- Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency (CYP11B1)
- Adrenal hypoplasia, congenital (NR0B1)
- Adrenoleukodystrophy (ABCD1)
- Adrenoleukodystrophy/Adrenomyeloneuropathy (ABCD1)
- ADULT syndrome, split hand-foot malformation (TP63)
- Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6)
- Aicardi-Goutieres syndrome (NGS Panel)
- Aicardi-Goutieres syndrome type 1 (TREX1)
- Aicardi-Goutieres syndrome type 2 (RNASEH2B)
- Aicardi-Goutieres syndrome type 3 (RNASEH2C)
- Aicardi-Goutieres syndrome type 4 (RNASEH2A)
- Aicardi-Goutieres syndrome type 5 (SAMHD1)
- Alagille syndrome type 1 (JAG1)
- Alagille syndrome type 2 (NOTCH2)
- Aland Island eye disease (CACNA1F)
- Albinism (NGS Panel)
- Albinism oculocutaneous type IV (SLC45A2)
- Albinism oculocutaneous type V (C10ORF11)
- Albinism, ocular type I, Nettleship-Falls type (GPR143)
- Albinism, oculocutaneous type 1A (TYR)
- Albinism, oculocutaneous type 1B (TYR)
- Albinism, oculocutaneous type II (OCA2)
- Albinism, oculocutaneous type III (TYRP1)
- Alexander disease (GFAP)
- Alkaptonuria (HGD)
- Allan-Herndon-Dudley syndrome (SLC16A2)
- Allan-Herndon-Dudley syndrome (SLC16A2)
- Alpha methylacyl CoA racemase deficiency (AMACR)
- Alpha-B-Crystallinopathy (CRYAB)
- Alpha-Thalassemia Myelodysplasia Syndrome, somatic (ATRX)
- Alport syndrome (NGS Panel)
- Alport syndrome, AR (COL4A3)
- Alport syndrome, AR (COL4A3)
- Alport syndrome, AR (COL4A4)
- Alport syndrome, AR (COL4A4)
- Alport syndrome, X-Linked (COL4A5)
- Alport syndrome, X-Linked (COL4A5)
- ALS - panel (NGS Panel)
- Alstrom syndrome (ALMS1)
- Alzheimer disease type 1 (APP)
- Alzheimer disease type 3 (PSEN1)
- Alzheimer disease type 4 (PSEN2)
- Alzheimers disease, early onset, autosomal dominant (SORL1)
- Amish infantile epilepsy syndrome (ST3GAL5)
- Amyloidosis (TTR)
- Amyotrophic lateral sclerosis risk factor (CHGB)
- Amyotrophic lateral sclerosis type 1 (SOD1)
- Amyotrophic lateral sclerosis type 10 (TARDBP)
- Amyotrophic lateral sclerosis type 11 (FIG4)
- Amyotrophic lateral sclerosis type 12 (OPTN)
- Amyotrophic lateral sclerosis type 18 (PFN1)
- Amyotrophic lateral sclerosis type 2 (ALS2)
- Amyotrophic lateral sclerosis type 4 (SETX)
- Amyotrophic lateral sclerosis type 6 (FUS)
- Amyotrophic lateral sclerosis type 8 (VAPB)
- Amyotrophic lateral sclerosis type 9 (ANG)
- Amyotrophic lateral sclerosis with frontotemporal dementia (C9orf72)
- Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS (UBQLN2)
- Amyotrophy hereditary neuralgic (SEPT9)
- Andermann syndrome (SLC12A6)
- Andersen disease (GBE1)
- Androgen insensitivity (AR)
- Anemia X linked (GATA1)
- Anemia, dyserythropoietic congenital type I (CDAN1)
- Anemia, dyserythropoietic congenital type II (SEC23B)
- Angelman syndrome (chr. 15q11)
- Angelman syndrome (UBE3A)
- Angelman-like syndrome (CDKL5)
- Angelman-like syndrome (MECP2)
- Angioedema, hereditary (SERPING1)
- Aniridia (PAX6)
- Ankyloblepharon-ectodermal defects-cleft lip/palate (TP63)
- Antithrombin III deficiency (SERPINC1)
- Antitrypsin-alpha-1 deficiency (SERPINA1)
- Aortic Aneurysm, familial thoracic (ACTA2)
- Aortic Aneurysm, familial thoracic (FBN1)
- Aortic Aneurysm, familial thoracic (MYH11)
- Aortic Aneurysm, familial thoracic (NGS Panel)
- Aortic Aneurysm, familial thoracic (MYLK)
- Aortic Aneurysm, familial thoracic (TGFBR1)
- Aortic Aneurysm, familial thoracic (TGFBR2)
- Aortic aneurysm, familial thoracic type 6 (ACTA2)
- Aortic valve disease 1 (NOTCH1)
- Aortic valve disease 2 (SMAD6)
- Aplastic anemia (IFNG)
- Aplastic anemia (NBN)
- Aplastic anemia (PRF1)
- Aplastic anemia (SBDS)
- Aplastic anemia (TERC)
- Aplastic anemia (TERT)
- Apolipoprotein C-II deficiency (APOC2)
- Apolipoprotein E deficiency (APOE)
- Apparent mineralocorticoid excess (HSD11B2)
- Arginase deficiency / hyperargininemia (ARG1)
- Arginine: Glycine amidinotransferase deficiency (GATM)
- Argininosuccinic aciduria / ASL deficiency (ASL)
- Aromatase deficiency (CYP19A1)
- Array CGH
- Arrhythmia, familial (NGS Panel)
- Arrhythmogenic Right Ventricular Cardiomyopathy (NGS Panel)
- Arrhythmogenic right ventricular cardiomyopathy type 1 (TGFB3)
- Arrhythmogenic right ventricular cardiomyopathy type 10 (DSG2)
- Arrhythmogenic right ventricular cardiomyopathy type 11 (DSC2)
- Arrhythmogenic right ventricular cardiomyopathy type 12 (JUP)
- Arrhythmogenic right ventricular cardiomyopathy type 5 (TMEM43)
- Arrhythmogenic right ventricular cardiomyopathy type 8 (DSP)
- Arrhythmogenic right ventricular cardiomyopathy type 9 (PKP2)
- Arterial Hypertension, idiopathic pulmonary (BMPR1B)
- Arterial Tortuosity Syndrome (SLC2A10)
- Arthrogryposis (NGS Panel)
- Arthrogryposis, distal type 1 (MYBPC1)
- Arthrogryposis, distal type 1 (TPM2)
- Arthrogryposis, distal type 2A (MYH3)
- Arthrogryposis, distal type 2B (MYH3)
- Arthrogryposis, distal type 2B (TNNI2)
- Arthrogryposis, distal type 2B (TNNT3)
- Arthrogryposis, distal type 7 (MYH8)
- Arthrogryposis, distal type 9 (FBN2)
- Arthropathy, progressive pseudorheumatoid, of childhood (WISP3)
- Arts syndrome (PRPS1)
- Ashkenazi panel (Gaucher disease [7 mutations], CF [26 mutations], Tay Sachs disease [7 mutations], FD [2 mutations], Canavan disease [4 mutations], GSDIa [2 mutations], Hyperinsulinemic hypoglycemia 1 [2 mutations], Maple syrup urine disease [3 mutations (Sanger Panel)
- Asperger syndrome susceptibility X-linked type I (NLGN3)
- Ataxia oculomotor apraxia PIK3R5 related (PIK3R5)
- Ataxia telangiectasia like disorder (MRE11A)
- Ataxia-oculomotor apraxia type 1 (APTX)
- Ataxia-oculomotor apraxia type 2 (SETX)
- Ataxia-telangiectasia (ATM)
- Athabaskan brainstem dysgenesis syndrome (HOXA1)
- Atrial fibrillation type 11 (GJA5)
- Atrial fibrillation type 3 (KCNQ1)
- Atrial fibrillation type 4 (KCNE2)
- Atrial fibrillation type 6 (NPPA)
- Atrial fibrillation type 7 (KCNA5)
- Atrial septal defect type 2 (GATA4)
- Atrial septal defect type 3 (MYH6)
- Atrial septal defect type 9 (GATA6)
- Atrial septal defect with atrioventricular conduction defects (NKX2-5)
- Atrioventricular septal defect type 5 (GATA6)
- Auriculocondylar syndrome (GNA13)
- Auriculocondylar syndrome 2 (PLCB4)
- Auriculocondylar syndrome type 1 (GNA13)
- Auriculocondylar syndrome type 2 (PLCB4)
- Autism susceptibility X-linked type I (NLGN3)
- Autism susceptibility X-linked type II (NLGN4X)
- Autism susceptibility, X-linked type 3 (MECP2)
- Autism, susceptibility to, X-linked type 5 (RPL10)
- Autoimmune lymphoproliferative syndrome (CASP10)
- Autoimmune lymphoproliferative syndrome (CASP8)
- Autoimmune lymphoproliferative syndrome (FAS)
- Autoimmune lymphoproliferative syndrome (FASLG)
- Autoinflammation, lipodystrophy, and dermatosis syndrome (PSMB8)
- Autosomal dominant lateral temporal lobe epilepsy (LGI1)
- Autosomal dominant nocturnal frontal lobe epilepsy type 1 (CHRNA4)
- Autosomal dominant nocturnal frontal lobe epilepsy type 4 (CHRNA2)
- Autosomal nonsyndromic male infertility (CATSPER2)
- Autosomal-dominant striatal degeneration (PDE8B)
- Axenfeld-Rieger syndrome type 3 (CYP1B1)
- Axenfeld-Rieger syndrome type 3 (FOXC1)
- Axenfeld-Rieger syndrome type 3 (PAX6)
- Axenfeld-Rieger syndrome type 3 (PITX2)
- 17-beta hydroxysteroid dehydrogenase X deficiency (HSD17B10)
- 3-beta-hydroxysteroid dehydrogenase deficiency type II (HSD3B2)
- Baller-Gerold syndrome (RECQL4)
- Baraitser-Winter syndrome 1 (ACTB)
- Baraitser-Winter syndrome 2 (ACTG1)
- Bardet Biedl panel (NGS Panel)
- Bardet-Biedl syndrome CCDC28B related (CCDC28B)
- Bardet-Biedl syndrome LZTFL1 related (LZTFL1)
- Bardet-Biedl syndrome type 1 (BBS1)
- Bardet-Biedl syndrome type 10 (BBS10)
- Bardet-Biedl syndrome type 11 (TRIM32)
- Bardet-Biedl syndrome type 12 (BBS12)
- Bardet-Biedl syndrome type 13 (BBS13)
- Bardet-Biedl syndrome type 15 (WDPCP)
- Bardet-Biedl syndrome type 2 (BBS2)
- Bardet-Biedl syndrome type 3 (ARL6)
- Bardet-Biedl syndrome type 4 (BBS4)
- Bardet-Biedl syndrome type 5 (BBS5)
- Bardet-Biedl syndrome type 6 (MKKS)
- Bardet-Biedl syndrome type 7 (BBS7)
- Bardet-Biedl syndrome type 8 (TTC8)
- Bardet-Biedl syndrome type 9 (BBS9)
- Barth syndrome (TAZ)
- Bartter syndrome type 3 (CLCNKB)
- Basal cell nevus syndrome, Gorlin syndrome (PTCH1)
- Basal ganglia calcification, idiopathic, 3 (SLC20A2)
- Beckwith-Wiedemann syndrome (CDKN1C)
- Beckwith-Wiedemann syndrome (chr. 11p15)
- Beckwith-Wiedemann syndrome (NSD1)
- Benign familial neonatal seizures (KCNQ2)
- Bernard Soulier syndrome type A1 (GP1BA)
- Bernard Soulier syndrome type A2 (GP1BA)
- Bernard Soulier syndrome type B (GP1BB)
- Bernard Soulier syndrome type C (GP9)
- Bestrophinopathy (BEST1)
- Bethlem myopathy (COL6A1)
- Bethlem myopathy (COL6A2)
- Bethlem myopathy (COL6A3)
- Bifid nose (FREM1)
- Bile acid synthesis defect congenital (CYP7B1)
- Biotinidase deficiency (BTD)
- Birt-Hogg-Dube syndrome (FLCN)
- Bjornstad syndrome (BCS1L)
- Blepharophimosis, epicanthus inversus, and ptosis (FOXL2)
- Bloom syndrome (BLM)
- Bone marrow failure (SRP72)
- Borjeson-Forssman-Lehmann syndrome (PHF6)
- Bothnia retinal dystrophy (RLBP1)
- Brachydactyly type B1 (ROR2)
- Brachydactyly, type A2 (BMP2)
- Brachydactyly, type A2 (BMPR1B)
- Brachydacytly-mental retardation syndrome (HDAC4)
- Branchiootorenal syndrome 1 (EYA1)
- Breast cancer susceptibility to (BARD1)
- Breast ovarian cancer (NGS Panel)
- Breast-ovarian cancer (BRCA1)
- Breast-ovarian cancer (BRCA2)
- Breast-ovarian cancer (RAD51C)
- Breast-ovarian cancer (RAD51D)
- Brittle cornea syndrome (ZNF469)
- Brody myopathy (ATP2A1)
- Bronchiectasis with or without elevated sweat chloride 2 (SCNNA1)
- Bruck syndrome type 2 (PLOD2)
- Brugada syndrome (NGS Panel)
- Brugada syndrome (SLMAP)
- Brugada syndrome type 1 (SCN5A)
- Brugada syndrome type 2 (GPD1L)
- Brugada syndrome type 3 (CACNA1C)
- Brugada syndrome type 4 (CACNB2)
- Brugada syndrome type 5 (SCN1B)
- Brugada syndrome type 6 (KCNE3)
- Brugada syndrome type 7 (SCN3B)
- Brugada syndrome type 8 (HCN4)
- Brunner syndrome (MAOA)
- Budd-Chiari syndrome (F5)
- Budd-Chiari syndrome (JAK2)
- Buschke-Ollendorff syndrome (LEMD3)
- CADASIL (NOTCH3)
- Campomelic dysplasia (SOX9)
- Camurati-Engelmann disease (TGFB1)
- Canavan disease (ASPA)
- Cantu syndrome (ABCC9)
- CARASIL (HTRA1)
- Carbamoylphosphate synthetase I deficiency (CPS1)
- Cardiac valvular dysplesia, X-linked (FLNA)
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency (SCO2)
- Cardiofaciocutaneous syndrome (BRAF)
- Cardiofaciocutaneous syndrome (KRAS)
- Cardiofaciocutaneous syndrome (MAP2K1)
- Cardiofaciocutaneous syndrome (MAP2K2)
- Cardiomyopathy dilated (NGS Panel)
- Cardiomyopathy hypertrophic (NGS Panel)
- Cardiomyopathy, dilated (MYBPC3)
- Cardiomyopathy, dilated type 1A (LMNA)
- Cardiomyopathy, dilated type 1C (LDB3)
- Cardiomyopathy, dilated type 1D (TNNT2)
- Cardiomyopathy, dilated type 1E (SCN5A)
- Cardiomyopathy, dilated type 1EE (MYH6)
- Cardiomyopathy, dilated type 1G (TTN)
- Cardiomyopathy, dilated type 1HH (BAG3)
- Cardiomyopathy, dilated type 1I (DES)
- Cardiomyopathy, dilated type 1L (SGCD)
- Cardiomyopathy, dilated type 1M (CSRP3)
- Cardiomyopathy, dilated type 1N (TCAP)
- Cardiomyopathy, dilated type 1O (ABCC9)
- Cardiomyopathy, dilated type 1P (PLN)
- Cardiomyopathy, dilated type 1R (ACTC1)
- Cardiomyopathy, dilated type 1S (MYH7)
- Cardiomyopathy, dilated type 1T (TMPO)
- Cardiomyopathy, dilated type 1U (PSEN1)
- Cardiomyopathy, dilated type 1V (PSEN2)
- Cardiomyopathy, dilated type 1W (VCL)
- Cardiomyopathy, dilated type 1X (FKTN)
- Cardiomyopathy, dilated type 1Y (TPM1)
- Cardiomyopathy, dilated type 1Z (TNNC1)
- Cardiomyopathy, dilated type 2A (TNNI3)
- Cardiomyopathy, dilated type 3B (DMD)
- Cardiomyopathy, dilated type J (EYA4)
- Cardiomyopathy, dilated with woolly hair and keratoderma (DSP)
- Cardiomyopathy, familial hypertrophic (CAV3)
- Cardiomyopathy, familial hypertrophic type 1 (MYH7)
- Cardiomyopathy, familial hypertrophic type 10 (MYL2)
- Cardiomyopathy, familial hypertrophic type 11 (ACTC1)
- Cardiomyopathy, familial hypertrophic type 12 (CSRP3)
- Cardiomyopathy, familial hypertrophic type 2 (TNNT2)
- Cardiomyopathy, familial hypertrophic type 3 (TPM1)
- Cardiomyopathy, familial hypertrophic type 4 (MYBPC3)
- Cardiomyopathy, familial hypertrophic type 6 (PRKAG2)
- Cardiomyopathy, familial hypertrophic type 7 (TNNI3)
- Cardiomyopathy, familial hypertrophic type 8 (MYL3)
- Cardiomyopathy, familial hypertrophic type9 (TTN)
- Cardiomyopathy, familial restrictive type 1 (TNNI3)
- Cardiomyopathy, fatal (MT-TI)
- Cardiomyopathy, idiopathic dilated, mitochondrial (MT-TH)
- Carnitine deficiency (SLC22A5)
- Carnitine palmitoyltransferase IB deficiency (CPT1B )
- Carnitine palmitoyltransferase II deficiency (CPT2)
- Cataract panel AR (NGS Panel)
- Cataract, autosomal dominant nuclear, included (GCNT2)
- Cataract, autosomal recessive congenital nuclear type 2 (CRYBB3)
- Cataract, autosomal recessive congenital nuclear type 3 (CRYBB1)
- Cataract, autosomal recessive congenital type 1 (CRYAA)
- Cataract, autosomal recessive congenital type 2 (FYCO1)
- Cataract, autosomal recessive congenital type 4 (TDRD7)
- Cataract, autosomal recessive congenital type 5 (AGK)
- Cataract, congenital, associated with Marinesco-Sjogren Syndrome (SIL1)
- Cataract, congenital, X-linked (NHS)
- Cataract, cortical pulverulent, late-onset (LIM2)
- Cataract, lamellar (HSF4)
- Cataract, posterior polar type 2 (CRYAB)
- Cataract-microcornea syndrome (GJA8)
- Cataracts facial dysmorphism and neuropathy (CTDP1)
- Catecholaminergic polymorphic ventricular tachycardia (NGS Panel)
- Central core disease of muscle (RYR1)
- Central hypoventilation syndrome (NGS Panel)
- Central hypoventilation syndrome, congenital (ASCL1)
- Central hypoventilation syndrome, congenital (ASCL1)
- Central hypoventilation syndrome, congenital (ASCL1)
- Central hypoventilation syndrome, congenital (BDNF)
- Central hypoventilation syndrome, congenital (ECE1)
- Central hypoventilation syndrome, congenital (EDN3)
- Central hypoventilation syndrome, congenital (GDNF)
- Central hypoventilation syndrome, congenital (GFRA1)
- Central hypoventilation syndrome, congenital (MECP2)
- Central hypoventilation syndrome, congenital (PHOX2A)
- Central hypoventilation syndrome, congenital (PHOX2B)
- Central hypoventilation syndrome, congenital (RET)
- Central hypoventilation syndrome, congenital (ZEB2)
- Central hypoventilation syndrome, congenital, with or without Hirschsprung disease (PHOX2B)
- Central hypoventilation syndrome, congenital, with or without Hirschsprung disease (PHOX2B)
- Centronuclear myopathy 1 (MTMR14)
- Centronuclear myopathy 3 (MYF6)
- Centronuclear myopathy 4 (CCDC78)
- Cerebellar ataxia with spasticity (GBA2)
- Cerebellar ataxia, autosomal recessive type 1 (SYNE1)
- Cerebellar ataxia, autosomal recessive, deafness, narcolepsy (DNMT1)
- Cerebellar ataxia, CAP (NGS Panel)
- Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (VLDLR)
- Cerebral cavernous malformations type 1 (KRIT1)
- Cerebral cavernous malformations type 2 (CCM2)
- Cerebral cavernous malformations type 3 (PDCD10)
- Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (SNAP29)
- Cerebrooculofacioskeletal syndrome, type 4 (ERCC1)
- Cerebrotendinous xanthomatosis (CYP27A1)
- Ceroid lipofuscinosis (NGS Panel)
- Ceroid lipofuscinosis, neuronal type 1 (PPT1)
- Ceroid lipofuscinosis, neuronal type 10 (CTSD)
- Ceroid lipofuscinosis, neuronal type 2 (CLN2)
- Ceroid lipofuscinosis, neuronal type 3 (CLN3)
- Ceroid lipofuscinosis, neuronal type 5 (CLN5)
- Ceroid lipofuscinosis, neuronal type 6 (CLN6)
- Ceroid lipofuscinosis, neuronal type 7 (MFSD8)
- Ceroid lipofuscinosis, neuronal type 8 (CLN8)
- Cervical dystonia (CIZ1)
- Chanarin-Dorfman syndrome (ABHD5)
- Charcot-Marie-Tooth disease dominant intermediate (GNB4)
- CHARGE syndrome (CHD7)
- Chediak-Higashi syndrome (LYST)
- CHILD syndrome (NSDHL)
- CHIME syndrome (PIGL)
- Cholestasis familial intrahepatic of pregnancy (ABCB4)
- Cholestasis progressive familial intrahepatic 3 (ABCB4)
- Cholestasis, progressive familial intrahepatic 1 (ATP8B1)
- Cholestasis, progressive familial intrahepatic 2 (ABCB11)
- Chorea, hereditary benign (NKX2-1)
- Choreoacanthocytosis (VPS13A)
- Choroidal dystrophy, central areolar type 2 (PRPH2)
- Choroidermia (CHM)
- Chronic granulomatous disease, X-linked (CYBB)
- Citrin deficiency (SLC25A13)
- Citrullinemia (ASS1)
- CK syndrome (NSDHL)
- Cleidocranial dysplasia (RUNX2)
- CLOVE syndrome (PIK3CA)
- Club foot (PITX1)
- CMT neuropathy axonal AD (NGS Panel)
- CMT neuropathy demyelinating (NGS Panel)
- CMT1A (PMP22)
- CMT1B (MPZ)
- CMT1C (LITAF)
- CMT1D (EGR2)
- CMT1E (PMP22)
- CMT1F (NEFL)
- CMT2, unclassified (AARS)
- CMT20 (DYNC1H1)
- CMT2A1 (KIF1B)
- CMT2A2 (MFN2)
- CMT2B (RAB7A)
- CMT2B1 (LMNA)
- CMT2B2 (MED25)
- CMT2C (TRPV4)
- CMT2D (GARS)
- CMT2E (NEFL)
- CMT2F (HSPB1)
- CMT2I (MPZ)
- CMT2J (MPZ)
- CMT2K (GDAP1)
- CMT2L (HSPB8)
- CMT4-CTDP1 related (CTDP1)
- CMT4A (GDAP1)
- CMT4B1 (MTMR2)
- CMT4B2 (SBF2)
- CMT4C (SH3TC2)
- CMT4C1 (LMNA)
- CMT4D (NDRG1)
- CMT4E (EGR2)
- CMT4E (MPZ)
- CMT4F (PRX)
- CMT4H (FGD4)
- CMT4J (FIG4)
- CMTX1 (GJB1)
- CMTX5 (PRPS1)
- CoA-2 4-dienoyl reductase 1 deficiency (DECR1)
- CoA-3-hydroxy-3-methylglutaryl lyase deficiency (HMGCL)
- CoA-3-hydroxyacyl dehydrogenase deficiency (HADH)
- CoA-3-methylcrontonyl carboxylase 1 deficiency (MCCC1)
- CoA-3-methylcrontonyl carboxylase 2 deficiency (MCCC2)
- COACH syndrome (CC2D2A)
- COACH syndrome (RPGRIP1L)
- COACH syndrome (TMEM67)
- Coat plus syndrome (CTC1)
- Coenzyme Q10 deficiency type 1 (COQ2)
- Coenzyme Q10 deficiency type 1 (COQ2)
- Coenzyme Q10 deficiency type 2 (PDSS1)
- Coenzyme Q10 deficiency type 3 (PDSS2)
- Coenzyme Q10 deficiency type 5 (COQ9)
- Coffin-Lowry syndrome (RPS6KA3)
- Coffin-Siris Syndrome (NGS Panel)
- COFFIN-SIRIS SYNDROME (SMARCE1)
- Cohen syndrome (VPS13B)
- Colobomatous microphthalmia (ODZ3)
- Colon cancer (NGS Panel)
- Colorectal adenomatous polyposis (MUTYH)
- Colorectal cancer, hereditary nonpolyposis type 1 (MSH2)
- Colorectal cancer, hereditary nonpolyposis type 2 (MLH1)
- Colorectal cancer, hereditary nonpolyposis type 4 (PMS2)
- Colorectal cancer, hereditary nonpolyposis type 5 (MSH6)
- Colorectal cancer, hereditary nonpolyposis type 6 (TGFBR2)
- Colorectal cancer, hereditary nonpolyposis type 7 (MLH3)
- Colorectal cancer, hereditary nonpolyposis type 8 (EPCAM)
- Colorectal cancer, somatic (FLCN)
- Combined malonic and methylmalonic aciduria (ACSF3)
- Combined oxidative phosphorylation deficiency 1 (GFM1)
- Combined oxidative phosphorylation deficiency 2 (MRPS16)
- Combined oxidative phosphorylation deficiency 3 (TSFM)
- Combined oxidative phosphorylation deficiency 4 (TUFM)
- Combined oxidative phosphorylation deficiency 6 (AIFM1 )
- Combined oxidative phosphorylation deficiency 7 (C12ORF65)
- Compton-North congenital myopathy (CNTN1)
- Cone-rod and cone dystrophy CORD AD (NGS Panel)
- Cone-rod and cone dystrophy CORD AR (NGS Panel)
- Cone-rod dystrophy (AIPL1 )
- Cone-rod dystrophy (UNC119)
- Cone-rod dystrophy type 11 (RAX2)
- Cone-rod dystrophy type 12 (PROM1)
- Cone-rod dystrophy type 13 (RPGRIP1)
- Cone-rod dystrophy type 14 (GUCA1A)
- Cone-rod dystrophy type 15 (CDHR1)
- Cone-rod dystrophy type 2 (CRX )
- Cone-rod dystrophy type 3 (ABCA4)
- Cone-rod dystrophy type 4 (PDE6C)
- Cone-rod dystrophy type 5 (PITPNM3)
- Cone-rod dystrophy type 7 (RIMS1)
- Cone-rod dystrophy type 9 (ADAM9 )
- Cone-rod dystrophy, X-linked type 3 (CACNA1F)
- Congenital muscular dystrophy and hypoglycosylation of ?-dystroglycan (B3GALNT2)
- Congenital myasthenic syndrome (NGS Panel)
- Congenital myopathy (NGS Panel)
- Congenital short-bowel syndrome (CLMP)
- Convulsions, benign familial infantile, 3 (SCN2A)
- Cori Forbes disease (AGL)
- Corneal dystrophy of Bowman layer type 1 (TGFBI)
- Corneal dystrophy, Avellino type (TGFBI)
- Corneal dystrophy, epithelial basement membrane (TGFBI)
- Corneal dystrophy, lattice type I (TGFBI)
- Corneal dystrophy, lattice type IIIA (TGFBI)
- Corneal endothelial dystrophy 2 (SLC4A11)
- Cornelia de Lange syndrome (NGS Panel)
- Cornelia de Lange syndrome 4 (RAD21)
- Cornelia de Lange syndrome 5 (HDAC8)
- Cornelia de Lange syndrome type 1 (NIPBL)
- Cornelia de Lange syndrome type 2 (SMC1A)
- Cornelia de Lange syndrome type 2 (SMC1A)
- Cornelia de Lange syndrome type 3 (SMC3)
- Corpus callosum agenesis of with mental retardation ocular coloboma and micrognathia (IGBP1)
- Corpus callosum, agenesis of, with abnormal genitalia (ARX)
- Cortical dysplasia, complex, with other brain malformations (TUBB3)
- Cortical dysplasia-focal epilepsy syndrome (CNTNAP2)
- Costello syndrome (HRAS)
- Cowden disease (PTEN)
- Craniosynostosis type 2 (MSX2)
- CRASH syndrome (L1CAM)
- Creatine deficiency syndrome X-linked (SLC6A8)
- Creatine deficiency syndrome, X-linked (SLC6A8)
- Creatine phosphokinase, elevated serum (CAV3)
- Creutzfeldt-Jakob disease (PRNP)
- Currarino syndrome (MNX1)
- Cutis laxa type IB (EFEMP2)
- Cutis laxa type IIB (PYCR1)
- Cutis laxa type IIIB (PYCR1)
- Cystic fibrosis (CFTR)
- Cystinosis, nephropathic (CTNS)
- Cystinosis, nephropathic (CTNS)
- Cystinuria (SLC3A1)
- Cystinuria (SLC7A9)
- Cytochrome c oxidase deficiency (COX6B1)
- D-2-hydroxyglutaric aciduria (D2HGDH)
- Danon disease (LAMP2)
- Danon disease (LAMP2)
- Deafness (SUN1)
- Deafness (SYNE4)
- Deafness 1A (GJB2)
- Deafness 1B (GJB6)
- Deafness and male infertility (STRC)
- Deafness type 1 (DIAPH1)
- Deafness type 10 (EYA4)
- Deafness type 11 (MYO7A)
- Deafness type 12 (TECTA)
- Deafness type 13 (COL11A2)
- Deafness type 15 (POU4F3)
- Deafness type 16 (STRC)
- Deafness type 17 (MYH9)
- Deafness type 18 (USH1C)
- Deafness type 2 (MYO7A)
- Deafness type 20 (ACTG1)
- Deafness type 22 (MYO6)
- Deafness type 23 (SIX1)
- Deafness type 28 (TRIOBP)
- Deafness type 2A (KCNQ4)
- Deafness type 2B (GJB3)
- Deafness type 3 (MYO15A)
- Deafness type 30 (MYO3A)
- Deafness type 36 (TMC1)
- Deafness type 39 (HGF)
- Deafness type 3A (GJB2)
- Deafness type 3B (GJB6)
- Deafness type 4 (MYH14)
- Deafness type 44 (CCDC50)
- Deafness type 48 (CIB2)
- Deafness type 5 (DFNA5)
- Deafness type 52 (POU4F3)
- Deafness type 53 (COL11A2)
- Deafness type 6 (TMIE)
- Deafness type 6 (WFS1)
- Deafness type 7 (TMC1)
- Deafness type 77 (LOXHD1)
- Deafness type 84 (PTPRQ)
- Deafness type 9 (COCH)
- Deafness type 9 (OTOF)
- Deafness with keratopachydermia and constrictions of fingers and toes (GJB2)
- Deafness, AR (GJB3)
- Deafness, autosomal recessive 23 (PCDH15)
- Deafness, non-syndromic sensorineural AD (NGS Panel)
- Deafness, non-syndromic sensorineural AR (NGS Panel)
- Deafness, X-linked type 1 (PRPS1)
- Dehydrated hereditary stomatocytosis (PIEZO1)
- Dejerine-Sottas disease (EGR2)
- Dejerine-Sottas disease (GJB1)
- Dejerine-Sottas disease (MPZ)
- Dejerine-Sottas disease (PMP22)
- Dejerine-Sottas disease (PRX)
- Dejerine-Sottas Syndrome [DSS] (Sanger Panel)
- Delta-beta thalassemia (HBB)
- Dementia - Panel (Sanger Panel)
- Dementia, frontotemporal (GRN)
- Dementia, frontotemporal (MAPT)
- Dementia, frontotemporal (TARDBP)
- Dent disease type 2 (OCRL)
- Dentatorubral-pallidoluysian atrophy (ATN1)
- Dermatitis, atopic type 2 (FLG)
- DI-CMTB (DNM2)
- DI-CMTC (YARS)
- DI-CMTD (MPZ)
- Diabetes insipidus nephrogenic X-Linked (AVPR2)
- Diabetes insipidus, nephrogenic, autosomal (AQP2)
- Diabetes mellitus insulin-resistant with acanthosis nigricans (INSR)
- Diabetes mellitus neonatal (GLIS3)
- Diabetes mellitus noninsulin-dependent (KCNJ11)
- Diabetes mellitus permanent neonatal (G6PC2)
- Diabetes mellitus permanent neonatal (INS)
- Diabetes mellitus permanent neonatal (NEUROG3)
- Diabetes mellitus transient neonatal 3 (KCNJ11)
- Diabetes mellitus type 1 (INS)
- Diabetes neonatal permanent (NGS Panel)
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma (MTAP)
- DiGeorge syndrome (TBX1)
- Dopamine beta-hydroxylase (DBH) deficiency (DBH)
- Doyne honeycob retinal dystrophy (EFEMP1)
- Dravet syndrome (GABRG2)
- Dravet syndrome (SCN1A)
- Dravet syndrome (NGS Panel)
- Dravet syndrome (SCN2A)
- Dravet syndrome (SCN9A)
- Duane Retraction syndrome (CHN1)
- Duane Retraction syndrome (SALL4)
- Duane-radial ray syndrome (SALL4)
- Dubin-Johnson syndrome (ABCC2)
- Dyschromatosis symmetrica hereditaria (ADAR)
- Dyserythropoietic anemia (COX4I2)
- Dyskeratosis congenita, AD type 1 (TERC)
- Dyskeratosis congenita, AD type 1 (TERT)
- Dyskeratosis congenita, AR type 1 (NOP10)
- Dyskeratosis congenita, AR type 2 (NHP2)
- Dyskeratosis congenita, X-linked (DKC1)
- Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)
- Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)
- Dystonia juvenile-onset (ACTB)
- Dystonia panel I (isolated torsion dystonia) (Sanger Panel)
- Dystonia panel II (DOPA-responsive dystonia) (Sanger Panel)
- Dystonia panel III (paroxysomal dystonia) (Sanger Panel)
- Dystonia, DOPA-responsive, AR (SPR)
- Dystonia-deafness syndrome (TIMM8A)
- Dystroglycanopathy panel (NGS Panel)
- DYT1 - dystonia type 1 (TOR1A)
- DYT10 - Paroxysmal kinesigenic dyskinesia (PRRT2)
- DYT11 - myoclonus-dystonia (SGCE)
- DYT12 dystonia parkinsonism (ATP1A3)
- DYT16 - dystonia 16 (PRKRA)
- DYT18 - dystonia 18 (SLC2A1)
- DYT3 - dystonia, X-linked (TAF1)
- DYT4 - musculorum deformans (TUBB4A)
- DYT5A - DOPA-responsive dystonia (GCH1)
- DYT5A - DOPA-responsive dystonia (TH)
- DYT6 - dystonia, primary (THAP1)
- DYT8 - dystonia 8 (MR1)
- Early infantile epileptic encephalopathy (NGS Panel)
- Early infantile epileptic encephalopathy type 1 (ARX)
- Early infantile epileptic encephalopathy type 10 (PNKP)
- Early infantile epileptic encephalopathy type 11 (SCN2A)
- Early infantile epileptic encephalopathy type 12 (PLCB1)
- Early infantile epileptic encephalopathy type 13 (SCN8A)
- Early infantile epileptic encephalopathy type 2 (CDKL5)
- Early infantile epileptic encephalopathy type 3 (SLC25A22)
- Early infantile epileptic encephalopathy type 4 (STXBP1)
- Early infantile epileptic encephalopathy type 5 (SPTAN1)
- Early infantile epileptic encephalopathy type 6 (SCN1A)
- Early infantile epileptic encephalopathy type 7 (KCNQ2)
- Early infantile epileptic encephalopathy type 9 (PCDH19)
- Ectodermal dysplasia, hidrotic (GJB6)
- Ectodermal dysplasia, hypohidrotic AR (EDAR)
- Ectodermal dysplasia, hypohidrotic AR (EDARADD)
- Ectodermal dysplasia, hypohidrotic, X-linked (EDA)
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (TP63)
- Ehlers Danlos syndrome (NGS Panel)
- Ehlers-Danlos syndrome type I/II (COL5A1)
- Ehlers-Danlos syndrome type I/II (COL5A2 )
- Ehlers-Danlos syndrome type III (COL3A1)
- Ehlers-Danlos syndrome type III (TNXB)
- Ehlers-Danlos syndrome type IV (COL3A1)
- Ehlers-Danlos syndrome type IV (COL5A1)
- Ehlers-Danlos syndrome type VI (PLOD1)
- Ehlers-Danlos syndrome type VIIA (COL1A1)
- Ehlers-Danlos syndrome type VIIB (ADAMTS2)
- Ehlers-Danlos syndrome type VIIC (COL1A2)
- Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (FKBP14)
- Emery-Dreifuss muscular dystrophy type 1 (EMD)
- Emery-Dreifuss muscular dystrophy type 2 (LMNA)
- Emery-Dreifuss muscular dystrophy type 4 (SYNE1)
- Emery-Dreifuss muscular dystrophy type 5 (SYNE2)
- Emery-Dreifuss muscular dystrophy type 6, X-linked (FHL1)
- Encephalomyopathy, mitochondrial (MT-TL2)
- Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (DNM1L)
- Encephalopathy acute necrotizing 1 (RANBP2)
- Encephalopathy neonatal severe (MECP2)
- Encephalopathy thiamine-responsive (SLC19A3)
- Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency (COX10)
- Endometrial carcinoma (MSH3)
- Endplate acetylcholinesterase deficiency (COLQ)
- Enzyme screening for storage diseases (Sanger Panel)
- Epidermolysis bullosa dystrophica (COL7A1)
- Epidermolysis bullosa junctionalis with pyloric atresia (ITGA6)
- Epidermolysis bullosa junctionalis with pyloric atresia (ITGB4)
- Epidermolysis bullosa simplex (KRT14)
- Epidermolysis bullosa simplex (KRT5)
- Epidermolysis bullosa simplex (PLEC)
- Epidermolysis bullosa simplex, autosomal recessive (DST)
- Epidermolysis bullosa simplex, autosomal recessive (DST)
- Epidermolysis bullosa, junctional (COL17A1)
- Epidermolysis bullosa, junctional (Sanger Panel)
- Epidermolysis bullosa, junctional (LAMB3)
- Epidermolysis bullosa, junctional (LAMC2)
- Epidermolysis bullosa, junctional LAMA3 (LAMA3)
- Epidermolysis bullosa, lethal acantholytic (DSP)
- Epidermolytic hyperkeratosis (KRT1)
- Epidermolytic hyperkeratosis (KRT10)
- Epidermolytic palmoplantar keratoderma (KRT9)
- Epilepsy childhood absence (NGS Panel)
- Epilepsy generalized with febrile seizures (NGS Panel)
- Epilepsy partial familial (NGS Panel)
- Epilepsy, benign neonatal (KCNQ2)
- Epilepsy, benign neonatal (KCNQ3)
- Epilepsy, childhood absence, JRK related (JRK)
- Epilepsy, childhood absence, susceptibility to type 2 (GABRG2)
- Epilepsy, childhood absence, susceptibility to type 4 (GABRA1)
- Epilepsy, childhood absence, susceptibility to type 5 (GABRB3)
- Epilepsy, childhood absence, susceptibility to type 6 (CACNA1H)
- Epilepsy, familial temporal lobe, 5 (CPA6)
- Epilepsy, female-restricted, with mental retardation (PCDH19)
- Epilepsy, idiopathic generalized, susceptibility to type 10 (GABRD)
- Epilepsy, idiopathic generalized, susceptibility to type 11 (CLCN2)
- Epilepsy, juvenile absence, susceptibility to type 1 (EFHC1)
- Epilepsy, nocturnal frontal lobe (KCTN1)
- Epilepsy, nocturnal frontal lobe type 1 (CHRNA4)
- Epilepsy, nocturnal frontal lobe type 3 (CHRNB2)
- Epilepsy, nocturnal frontal lobe type 4 (CHRNA2)
- Epilepsy, X-linked, with variable learning disabilities and behavior disorders (SYN1)
- Epileptic encephalopathy, early infantile type 1 (ARX)
- Epileptic encephalopathy, early infantile type 2 (CDKL5)
- Epileptic encephalopathy, early infantile type 8 (ARHGEF9)
- Epileptic encephalopathy, early infantile type 9 (PCDH19)
- Episodic ataxia type 1 (KCNA1)
- Episodic ataxia type 2 (CACNA1A)
- Episodic ataxia type 5 (CACNB4)
- Episodic ataxia type 6 (SLC1A3)
- Episodic Ataxias - Panel 3 (Sanger Panel)
- Epstein syndrome (MYH9)
- Erythermalgia, primary (SCN9A)
- Erythrokeratodermia variabilis et progressive (GJB3)
- Erythrokeratodermia variabilis et progressive (GJB4)
- Essential hereditary tremor type 4 (FUS)
- Ethylmalonic encephalopathy (ETHE1)
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (COX4I2)
- Exudative vitreoretinopathy 2, X-linked (NDP)
- Fabry disease (GLA)
- Fabry disease (GLA)
- Faciogenital dysplasia (FGD1)
- Factor II deficiency (F2)
- Factor II deficiency (F2)
- Factor V deficiency (F5)
- Familial hemiplegic migraine (Sanger Panel)
- Familial hemiplegic migraine type 2 (ATP1A2)
- Familial hemiplegic migraine type 3 (SCN1A)
- Familial hemiplegic migraine type1 (CACNA1A)
- Familial infantile myoclonic epilepsy (TBC1D24)
- Fanconi anemia (NGS Panel)
- Fanconi anemia - XRCCR2 related (XRCC2)
- Fanconi anemia type A (FANCA)
- Fanconi anemia type B (FANCB)
- Fanconi anemia type C (FANCC)
- Fanconi anemia type D1 (BRCA2)
- Fanconi anemia type D2 (FANCD2)
- Fanconi anemia type E (FANCE)
- Fanconi anemia type F (FANCF)
- Fanconi anemia type G (FANCG)
- Fanconi anemia type I (FANCI)
- Fanconi anemia type J (BRIP1)
- Fanconi anemia type L (FANCL)
- Fanconi anemia type M (FANCM)
- Fanconi anemia type N (PALB2)
- Fanconi anemia type P (SLX4)
- Fanconi anemia, complementation group B (FANCB)
- Fanconi-Bickel syndrome (SLC2A2)
- Fanconi-Bickel syndrome (SLC2A2)
- Farber disease (ASAH1)
- Fatal familial imsomnia (PRNP)
- Feingold syndrome (MYCN)
- Feingold syndrome type 2 (MIR17HG)
- Fetal akinesia deformation sequence (DOK7)
- Fetal akinesia deformation sequence (RAPSN)
- FG syndrome type 1 (MED12)
- FG syndrome type 2 (FLNA)
- FG syndrome type 4 (CASK)
- Fibrochondrogenesis 2 (COL11A2)
- Fibrodysplasia ossificans progressiva (ACVR1)
- Fibrosis of extraocular muscles, congenital type II (PHOX2A)
- Fibrosis of extraocular muscles, congenital, 1 (KIF21A)
- Fibrosis of extraocular muscles, congenital, 3a (TUBB3)
- Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly (WNT7A)
- Filaminopathy (FLNC)
- Floating-Harbor syndrome (SRCAP)
- Focal dermal hypoplasia (PORCN)
- Focal dystonia (ANO3)
- Focal dystonia (GNAL)
- Focal segmental glomerulosclerosis type 1 (ACTN4)
- Focal segmental glomerulosclerosis type 2 (TRPC6)
- Focal segmental glomerulosclerosis type 3 (CD2AP)
- Focal segmental glomerulosclerosis type 5 (INF2)
- Fragile X syndrome (FMR1)
- Fragile X tremor/ataxia syndrome (FMR1)
- Frank-ter Haar syndrome (SH3PXD2B)
- Fraser syndrome (GRIP1)
- Friedreich ataxia (FXN)
- Frontometaphyseal dysplasia (FLNA)
- Fructose intolerance (ALDOB)
- Fructose-1,6-bisphosphatase deficiency (FBP1)
- Fructosuria essential (KHK)
- Fucosidosis (FUCA1)
- Fucosidosis (FUCA1)
- Fukuyama congenital muscular dystrophy (FKTN)
- Fumarase deficiency (FH)
- Fumarase deficiency (FH)
- Fundus albipunctatus (PRPH2)
- Fundus albipunctatus (RDH5)
- Fundus flavimaculatus (ABCA4)
- Fundus flavimaculatus (PRPH2)
- Galactokinase deficiency (GALK1)
- Galactose epimerase deficiency (GALE)
- Galactosemia (GALT)
- Galactosialidosis (CTSA )
- Gallbladder disease 1 (ABCB4)
- Gastric cancer, hereditary diffuse (CDH1)
- Gastric carcer (MUC1)
- Gastrointestinal stromal tumor (KIT)
- Gastrointestinal stromal tumor, somatic (PDGFRA)
- Gaucher disease (GBA)
- Geleophysic dysplasia (ADAMTSL2)
- Generalized epilepsy and paroxysmal dyskinesia (KCNMA1)
- Generalized epilepsy with febrile seizures plus type 1 (SCN1B)
- Generalized epilepsy with febrile seizures plus type 2 (SCN1A)
- Generalized epilepsy with febrile seizures plus type 3 (GABRG2)
- Generalized epilepsy with febrile seizures plus type 5 (GABRD)
- Generalized epilepsy with febrile seizures plus type 7 (SCN9A)
- Genitopatellar syndrome (KAT6B)
- Gerstmann-Straussler disease (PRNP)
- Giant axonal neuropathy (GAN)
- Gilbert syndrome (UGT1A1)
- Gitelman syndrome (SLC12A3)
- Glaucoma, open angle type 1A (MYOC)
- Glaucoma, open angle type 1E (OPTN)
- Glaucoma, open angle type 1G (WDR36)
- Glaucoma, primary type 3A (CYP1B1)
- Glaucoma, primary type 3D (LTBP2)
- Glomerulosclerosis, focal segmental (ACTN4)
- Glucocorticoid deficiency (MC2R)
- Glucose-6-phosphate dehydrogenase deficiency with nonspherocytic hemolytic anemia (G6PD)
- Glutaric acidemia (GCDH)
- Glycerol Kinase deficiency (GK)
- Glycine encephalopathy (AMT)
- Glycine encephalopathy (GCSH)
- Glycine encephalopathy (GLDC)
- Glycogen storage disease type 0 muscle (GYS1)
- Glycogen storage disease type IA (G6PC)
- Glycogen storage disease type IB (SLC37A4)
- Glycogen storage disease type IC (SLC37A4)
- Glycogen storage disease type II (GAA)
- Glycogen storage disease type III (AGL)
- Glycogen storage disease type IV (GBE1)
- Glycogen storage disease type IX (PHKA2)
- Glycogen storage disease type IXb (PHKB)
- Glycogen storage disease type V (PYGM)
- Glycogen storage disease type VIB (PYGL)
- Glycogen storage disease type VII (PFKM)
- Glycogen storage disease type XI (LDHA)
- Glycogen storage disease type XIII (ENO3)
- Glycogen storage disease X (PGAM2)
- Glycogen storage disease XIV (PGM1)
- Glycoprotein Ia C807T polymorphism (ITGA2)
- Glycosylation disorde type 2C (SLC35C1)
- Glycosylation disorde type 2A (MGAT2)
- Glycosylation disorder type 1A (PMM2)
- Glycosylation disorder type 1B (MPI)
- Glycosylation disorder type 1C (ALG6)
- Glycosylation disorder type 1C (ALG6)
- Glycosylation disorder type 1D (ALG3)
- Glycosylation disorder type 1E (DPM1)
- Glycosylation disorder type 1E (DPM1)
- Glycosylation disorder type 1F (MPDU1)
- Glycosylation disorder type 1G (ALG12)
- Glycosylation disorder type 1H (ALG8)
- Glycosylation disorder type 1I (ALG2)
- Glycosylation disorder type 1J (DPAGT1)
- Glycosylation disorder type 1J (DPAGT2)
- Glycosylation disorder type 1K (ALG1)
- Glycosylation disorder type 1L (ALG9)
- Glycosylation disorder type 1M (DOLK)
- Glycosylation disorder type 1M (DOLK)
- Glycosylation disorder type 1N (RFT1)
- Glycosylation disorder type 2A (MGAT2)
- Glycosylation disorder type 2C (SLC35C1)
- Glycosylation disorder type 2D (B4GALT1)
- Glycosylation disorder type 2D (B4GALT1)
- Glycosylation disorder type 2E (COG7)
- Glycosylation disorder type 2E (COG7)
- Glycosylation disorder type 2F (SLC35A1)
- Glycosylation disorder type 2F (SLC35A1)
- Glycosylation disorder type 2G (COG1)
- Glycosylation disorder type 2G (COG1)
- Glycosylation disorder type 2H (COG8)
- Glycosylation disorder type 2H (COG8)
- Glycosylation disorder, congenital type IIk (TMEM165)
- Glycosylation disorder, congenital type Ir (DDOST)
- Glycosylation disorders (Sanger Panel)
- GM1-gangliosidosis (GLB1)
- GM1-gangliosidosis type I (GLB1)
- GM1-gangliosidosis type II (GLB1)
- GM2-gangliosidosis type II (HEXB)
- Goldberg-Shprintzen megacolon syndrome (KIAA1279)
- GRACILE syndrome (BCS1L)
- Greig cephalopolysyndactyly syndrome (GLI3)
- Griscelli syndrome type 1 (MYO5A)
- Griscelli syndrome type 2 (RAB27A)
- Growth hormone deficiency (GH1)
- Growth hormone deficiency (GHRHR)
- Guanidinoacetate methyltransferase deficiency (GAMT)
- 17 hydroxylation activity deficiency (CYP17A1)
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL)
- Haim-Munk syndrome (CTSC)
- Hamamy syndrome (IRX5)
- Hartnup disorder (SLC6A19)
- Hemimegalencephaly (AKT3)
- Hemochromatosis classical (HFE)
- Hemochromatosis type 2A (HJV)
- Hemochromatosis type 2B (HAMP)
- Hemochromatosis type 3 (TFR2)
- Hemochromatosis type 4 (SLC40A1)
- Hemolytic uremic syndrome (ADAMTS13)
- Hemolytic uremic syndrome (CD46)
- Hemolytic uremic syndrome (CFB)
- Hemolytic uremic syndrome (CFH)
- Hemolytic uremic syndrome (CFHR5)
- Hemolytic uremic syndrome (CFI)
- Hemolytic uremic syndrome (THBD)
- Hemophagocytic lymphohistiocytosis, familial type 1 (PRF1)
- Hemophagocytic lymphohistiocytosis, familial type 3 (UNC13D)
- Hemophagocytic lymphohistiocytosis, familial type 4 (STX11)
- Hemophagocytic lymphohistiocytosis, familial type 5 (STXBP2)
- Hepatic failure, early onset, and neurologic disorder (SCO1)
- Hereditary myopathy with early respiratory failure (TTN)
- Hermansky Pudlak syndrome 4 (HPS4)
- Hermansky-Pudlak syndrome (NGS Panel)
- Hermansky-Pudlak syndrome 1 (HPS1)
- Hermansky-Pudlak syndrome 2 (AP3B1)
- Hermansky-Pudlak syndrome 3 (HPS3)
- Hermansky-Pudlak syndrome 5 (HPS5)
- Hermansky-Pudlak syndrome 6 (HPS6)
- Hermansky-Pudlak syndrome 7 (DTNBP1)
- Hermansky-Pudlak syndrome 8 (BLOC1S3)
- Heterotopia, periventricular, ED variant (FLNA)
- Heterotopia, periventricular, X-linked dominant (FLNA)
- Hirschsprung disease (ECE1)
- Hirschsprung disease (NGS Panel)
- Hirschsprung disease (EDN3)
- Hirschsprung disease (EDNRB)
- Hirschsprung disease (GDNF)
- Hirschsprung disease (KIAA1279)
- Hirschsprung disease (NRG1)
- Hirschsprung disease (NRTN)
- Hirschsprung disease (RET)
- Hirschsprung disease (SOX10)
- Hirschsprung disease (ZEB2)
- Holocarboxylase synthetase deficiency (HLCS)
- Holoprosencephaly 2 (SIX3)
- Holoprosencephaly 3 (SHH)
- Holoprosencephaly 5 (ZIC2)
- Holt-Oram syndrome (SALL4)
- Holt-Oram syndrome (TBX5)
- Homocystinuria (CBS)
- Homocystinuria (MTHFR)
- Homocystinuria, B12-responsive (MTR)
- Homocystinuria-megaloblastic anemia, cbl E type (MTRR)
- Hoyeraal-Hreidarsson syndrome (DKC1)
- HSAN1 (SPTLC1)
- HSAN2A (WNK1)
- HSAN2B (FAM134B)
- HSAN3 (IKBKAP)
- HSAN4 (NTRK1)
- HSAN5 (NGFB)
- HSN2C (KIF1A)
- Huntington disease (HTT)
- Huntington disease-like type 1 (PRNP)
- Huntington disease-like type 2 (JPH3)
- Huntington disease-like type 4 (TBP)
- Hurler syndrome (IDUA)
- Hurler-Scheie syndrome (IDUA)
- Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 (ARX)
- Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction (L1CAM)
- Hydrolethalus syndrome (HYLS1)
- Hyperaldosteronism, familial, type III (KCNJ5)
- Hyperbilirubinemia, Rotor type, digenic (SLCO1B1)
- Hyperbilirubinemia, Rotor type, digenic (SLCO1B3)
- Hypercholesterolemia 3 AD (PCSK9)
- Hypercholesterolemia AR (LDLRAP1)
- Hypercholesterolemia due to LDL-receptor-disorder AD (LDLR)
- Hypercholesterolemia type B AD (APOB)
- Hyperekplexia, hereditary (GLRA1)
- Hyperekplexia, hereditary (GLRB)
- Hyperekplexia, hereditary (SLC6A5)
- Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA)
- Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA)
- Hyperinsulinemic hypoglycemia familial 1 (ABCC8)
- Hyperinsulinemic hypoglycemia familial 2 (KCNJ11)
- Hyperinsulinemic hypoglycemia familial 3 (GCK)
- Hyperinsulinemic hypoglycemia familial 6 (GLUD1)
- Hyperkalemic periodic paralysis (SCN4A)
- Hyperlipoproteinemia type I (LPL)
- Hypermanganesemia with dystonia, polycythemia, and cirrhosis (SLC30A10)
- Hyperoxaluria primary type I (AGXT)
- Hyperoxaluria primary type II (GRHPR)
- Hyperphenylalaninemia BH4-deficient C (QDPR)
- Hyperphosphatasia with mental retardation syndrome 2 (PIGO)
- Hypertension early onset (NR3C2)
- Hypertrophic osteoarthropathy type 2 (SLCO2A1)
- Hypoaldosteronism congenital due to CMO I deficiency (CYP11B2)
- Hypogonadism, alopecia, Diabetes mellitus, mental retardation, and extrapyramidal syndrome (DCAF17 )
- Hypogonadotropic hypogonadism (KISS1)
- Hypogonadotropic hypogonadism (KISS1R)
- Hypogonadotropic hypogonadism (NELF)
- Hypogonadotropic hypogonadism (NELF)
- Hypogonadotropic hypogonadism 11 with or without anosmia (TACR3)
- Hypogonadotropic hypogonadism 12 with or without anosmia (GNRH1)
- Hypogonadotropic hypogonadism 7 with or without anosmia (GNRHR)
- Hypogonadtropic hypogonadism 14 (WDR11)
- Hypokalemic periodic paralysis type 1 (CACNA1S)
- Hypokalemic periodic paralysis type 2 (SCN4A)
- Hypophosphatemic rickets, AD (FGF23)
- Hypophosphatemic rickets, AR type 1 (DMP1)
- Hypophosphatemic rickets, X-linked (PHEX)
- Hypospadias 2, X-linked (MAMLD1)
- Hypothyroidism congenital nongoitrous type 1 (TSHR)
- Hypothyroidism congenital nongoitrous type 2 (PAX8)
- Hypothyroidism congenital nongoitrous type 4 (TSHB)
- Hypothyroidism congenital nongoitrous type 6 (THRA)
- Ichthyosiform erythroderma, congenital, nonbullous type 1 (ALOX12B)
- Ichthyosiform erythroderma, congenital, nonbullous type 1 (ALOXE3)
- Ichthyosiform erythroderma, congenital, nonbullous type 1 (NIPAL4)
- Ichthyosiform erythroderma, congenital, nonbullous type 1 (TGM1)
- Ichthyosis congenita, Harlequin fetus type (ABCA12)
- Ichthyosis congenital, autosomal recessive - PNPLA1 related (PNPLA1)
- Ichthyosis follicularis, atricia, and photophobia syndrome (MBTPS2)
- Ichthyosis vulgaris (FLG)
- Ichthyosis, bullous type (KRT2)
- Ichthyosis, lamellar type 1 (TGM1)
- Ichthyosis, lamellar type 2 (ABCA12)
- Ichthyosis, lamellar type 3 (CYP4F22)
- Ichthyosis, lamellar type IV (LIPN)
- Ichthyosis, X-linked (STS)
- Immunodeficiency common variable 1 (ICOS)
- Immunodeficiency with natural killer cell deficiency (MCM4)
- Immunodeficiency, common variable, 7 (CR2)
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MAGT1)
- Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (FOXP3)
- Inclusion body myopathy (GNE)
- Infantile neuroaxonal dystrophy type I (PLA2G6)
- Insensitivity to pain, channelopathy-associated (SCN9A)
- Interstitial nephritis karyomegalic (FAN1)
- Intestinal pseudoobstraction, neuronal (FLNA)
- Intrinsic factor deficiency (GIF)
- Iridogoniodysgenesis, type 1 (FOXC1)
- Isovaleric acidemia (IVD)
- Jawal syndrome (RBBP8)
- Jensen syndrome (TIMM8A)
- Jervell and Lange-Nielsen syndrome type 1 (KCNQ1)
- Jervell and Lange-Nielsen syndrome type 2 (KCNE1)
- Johanson Blizzard syndrome (UBR1)
- Joubert syndrome (NGS Panel)
- Joubert syndrome type 1 (INPP5E)
- Joubert syndrome type 10 (OFD1)
- Joubert syndrome type 15 (CEP41)
- Joubert syndrome type 16 (TMEM138)
- Joubert syndrome type 17 (C5orf42)
- Joubert syndrome type 19 (ZNF423)
- Joubert syndrome type 2 (TMEM216)
- Joubert syndrome type 20 (TMEM231)
- Joubert syndrome type 3 (AHI1)
- Joubert syndrome type 4 (NPHP1)
- Joubert syndrome type 5 (CEP290)
- Joubert syndrome type 6 (TMEM67)
- Joubert syndrome type 7 (RPGRIP1L)
- Joubert syndrome type 8 (ARL13B)
- Joubert syndrome type 9 (CC2D2A)
- Joubert syndrome, EXOC8 related (EXOSC8 )
- Joubert/Meckel Gruber syndrome (NGS Panel)
- Juvenile polyposis syndrome (BMPR1A)
- Juvenile polyposis syndrome (SMAD4)
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
- Kabuki syndrome type 1 (MLL2)
- Kabuki syndrome type 2 (KDM6A)
- Kabuki syndrome type 2 (KDM6A)
- Kallmann syndrome (CHD7)
- Kallmann syndrome (FGF8)
- Kallmann syndrome (FGFR1)
- Kallmann syndrome (KAL1)
- Kallmann syndrome (PROK2)
- Kallmann syndrome (PROKR2)
- Kallmann syndrome type 2 (FGFR1)
- Kallmann syndrome type 2 (KAL1)
- Kallmann syndrome type 2 (PROK2)
- Kallmann syndrome type 2 (PROKR2)
- Kallmann syndrome, SEMA3A related (SEMA3A)
- Kallmann syndrome/HH (NGS Panel)
- Keratitis ichthyosis deafness syndrome AD (GJB2)
- Keratoderma, palmoplantar, with deafness (GJB2)
- Keratosis follicularis spinulosa declavans, X-linked (MBTPS2)
- Keratosis palmoplantaris striata II (DSP)
- Kindler syndrome (FERMT1 )
- Kleefstra syndrome (EHMT1)
- Knuckle pads and leukonychia sensorineural deafness (GJB2)
- Kohlschutter Tonz syndrome (ROGDI)
- Koolen syndrome (KANSL1)
- Krabbe disease (GALC)
- Krabbe disease (GALC)
- L-2-hydroxyglutaric aciduria (L2HGDH)
- Lacticacidemia due to PDX1 deficiency (PDHX)
- LADD syndrome (FGF10)
- Laryngoonychocutaneous syndrome (LAMA3)
- LCAD deficiency (ACADL)
- Leber congenital amaurosis (NGS Panel)
- Leber congenital amaurosis 11 (IMPDH1)
- Leber congenital amaurosis 12 (RD3)
- Leber congenital amaurosis 3 (SPATA7)
- Leber congenital amaurosis 5 (LCA5)
- Leber congenital amaurosis 6 (RPGRIP1)
- Leber congenital amaurosis 7 (CRX )
- Leber congenital amaurosis type 1 (GUCY2D)
- Leber congenital neuropathy (MTCYB)
- Leber optic atrophy (MT-ND1)
- Leber optic atrophy (MT-ND5)
- Leber optic atrophy (MT-ND6)
- Leber optic atrophy [LHON] (Sanger Panel)
- Legius syndrome (SPRED1)
- Leigh syndrome (BCS1L)
- Leigh syndrome (COX15)
- Leigh syndrome (FOXRED1)
- Leigh syndrome (MT-ND3)
- Leigh syndrome (NDUFA10)
- Leigh syndrome (NDUFA13)
- Leigh syndrome (NDUFA2)
- Leigh syndrome (NDUFAF1)
- Leigh syndrome (NDUFAF2)
- Leigh syndrome (NDUFAF3)
- Leigh syndrome (NDUFAF6)
- Leigh syndrome (NDUFS3)
- Leigh syndrome (NDUFS4)
- Leigh syndrome (NDUFS7)
- Leigh syndrome (NDUFS8)
- Leigh syndrome (NUBPL)
- Leigh syndrome and mitochondrial encephalopathy (ACAD9)
- Leigh syndrome and mitochondrial encephalopathy (NGS Panel)
- Leigh syndrome due to pyruvate carboxylase deficiency (PC)
- Leigh syndrome due to the mitochondrial complex IV deficiency (TACO1)
- Leigh syndrome, due to COX deficiency (SURF1)
- Leigh syndrome, French-Canadian type (LRPPRC)
- Leigh syndrome, X-linked (PDHA1)
- LEOPARD syndrome 3 (BRAF)
- Lesch-Nyham syndrome (HPRT1)
- Lethal congenital contracture syndrome 4 (MYBPC1)
- Leukemia megakaryoblastic of Down syndrome (GATA1)
- Leukodystrophy (NGS Panel)
- Leukodystrophy (LAMB1)
- Leukodystrophy demyelinating adult-onset autosomal dominant (LMNB1)
- Leukodystrophy hypomyelinating (GJC2)
- Leukodystrophy hypomyelinating, type 3 (AIMP1)
- Leukodystrophy hypomyelinating, type 7 (POLR3A)
- Leukodystrophy hypomyelinating, type 8 (POLR3B)
- Leukodystrophy, dysmyelination and spastic paraparesis, with or without dystonia, SPG35 (FA2H)
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (DARS2)
- Leukoencephalopathy with dystonia and motor neuropathy (SCP2)
- Leukoencephalopathy with vanishing white matter (EIF2B1)
- Leukoencephalopathy with vanishing white matter (EIF2B2)
- Leukoencephalopathy with vanishing white matter (EIF2B3)
- Leukoencephalopathy with vanishing white matter (EIF2B4)
- Leukoencephalopathy with vanishing white matter (EIF2B5)
- Leukoencephalopathy, cystic, without megalencephaly (RNASET2)
- Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
- Leydig cell adenoma (LHCGR)
- Li-Fraumeni syndrome type 1 (TP53)
- Li-Fraumeni syndrome type 2 (CHEK2)
- Liddle syndrome (SCNN1B)
- Liddle syndrome (SCNN1G)
- LIG4 syndrome (LIG4)
- Limb-girdle muscular dystrophy (NGS Panel)
- Limb-girdle muscular dystrophy, AD type 1A (MYOT)
- Limb-girdle muscular dystrophy, AD type 1B (LMNA)
- Limb-girdle muscular dystrophy, AD type 1C (CAV3)
- Limb-girdle muscular dystrophy, AD type 1E (DNAJB6)
- Limb-girdle muscular dystrophy, AD [LGMD] (Sanger Panel)
- Limb-girdle muscular dystrophy, AR type 2A (CAPN3)
- Limb-girdle muscular dystrophy, AR type 2B (DYSF)
- Limb-girdle muscular dystrophy, AR type 2C (SGCG)
- Limb-girdle muscular dystrophy, AR type 2D (SGCA)
- Limb-girdle muscular dystrophy, AR type 2E (SGCB)
- Limb-girdle muscular dystrophy, AR type 2F (SGCD)
- Limb-Girdle Muscular Dystrophy, AR Type 2G (TCAP)
- Limb-girdle muscular dystrophy, AR type 2H (TRIM32)
- Limb-girdle muscular dystrophy, AR type 2I (FKRP)
- Limb-Girdle Muscular Dystrophy, AR Type 2J (TTN)
- Limb-girdle muscular dystrophy, AR type 2K (POMT1)
- Limb-girdle muscular dystrophy, AR type 2L (ANO5)
- Limb-girdle muscular dystrophy, AR type 2M (FKTN)
- Limb-girdle muscular dystrophy, AR type 2N (POMT1)
- Limb-mammary syndrome (TP63)
- Lipodystrophy congenital generalized type 1 (AGPAT2)
- Lipodystrophy congenital generalized type 2 (BSCL2)
- Lipoid congenital adrenal hyperplasia (STAR)
- Lipoprotein glomerulopathy (APOE)
- Lissencephaly (NGS Panel)
- Lissencephaly type 1 (PAFAH1B1)
- Lissencephaly type 2 (RELN)
- Lissencephaly type 3 (TUBA1A)
- Lissencephaly type 4 with microcephaly (NDE1)
- Lissencephaly, X-linked type 2 (ARX)
- Lissencephaly, X-linked type 1 (DCX)
- Lissencephaly/Subcortical laminal heteropia, X-linked (DCX)
- Liver failure transient infantile (TRMU)
- Loeys-Dietz syndrome type 1A (TGFBR1)
- Loeys-Dietz syndrome type 1B (TGFBR2)
- Loeys-Dietz syndrome type 1C (SMAD3)
- Loeys-Dietz syndrome type 2A (TGFBR1)
- Loeys-Dietz syndrome type 2B (TGFBR2)
- Loeys-Dietz syndrome type 4 (TGFB2)
- Long QT syndrome (NGS Panel)
- Long QT syndrome type 1 (KCNQ1)
- Long QT syndrome type 10 (SCN4B)
- Long QT syndrome type 11 (AKAP9)
- Long QT syndrome type 12 (SNTA1)
- Long QT syndrome type 13 (KCNJ5)
- Long QT syndrome type 2 (KCNH2)
- Long QT syndrome type 3 (SCN5A)
- Long QT syndrome type 4 (ANK2)
- Long QT syndrome type 5 (KCNE1)
- Long QT syndrome type 6 (KCNE2)
- Long QT syndrome type 7 (KCNJ2)
- Long QT syndrome type 8 (CACNA1C)
- Long QT syndrome type 9 (CAV3)
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA)
- Lowe oculocerebrorenal syndrome (OCRL)
- Lowe syndrome (OCRL)
- Lujan-Fryns syndrome (MED12)
- Lung cancer (BRAF)
- Lung cancer (EGFR+E1563)
- Lymphoproliferative syndrome, X-linked type 1 (SH2D1A)
- Lymphoproliferative syndrome, X-linked type 2 (XIAP)
- 3-methylglutaconic aciduria, type I (AUH )
- 3-methylglutaconic aciduria, type III (OPA3)
- 3MC1 syndrome (MASP1)
- 3MC2 syndrome (COLEC11)
- Macular degeneration, age-related, 6 (RAX2)
- Macular dystrophy retinal 2 (PROM1)
- Macular dystrophy, vitelliform (BEST1)
- Macular dystrophy, vitelliform (PRPH2)
- Mainzer Saldino syndrome (IFT140)
- Mal de Meleda (SLURP1)
- Malignant hyperthermia (RYR1)
- Malignant hyperthermia type 5 (CACNA1S)
- Malignant hyperthermia [MHS] (Sanger Panel)
- Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
- Mandibulofacial dysostosis with microcephaly (EFTUD2)
- Mandibulofacial dysostosis with microcephaly (EFTUD2)
- Mannose-binding protein deficiency (MBL2)
- Mannosidosis-alpha (MAN2B1)
- Mannosidosis-beta (MANBA)
- Maple sirup urine disease type II (DBT)
- Maple sirup urine disease type III (DLD)
- Maple syrup urine disease (NGS Panel)
- Maple syrup urine disease type 1a (BCKDHA)
- Maple syrup urine disease type 1b (BCKDHB)
- Marfan syndrome (FBN1)
- Marfan Syndrome, TAAD and Related Disorders (NGS Panel)
- MASA syndrome (L1CAM)
- Maturity-onset diabetes of the young NKX2-2 related (NKX2-2)
- Maturity-onset diabetes of the young RFX6 related (RFX6)
- Maturity-onset diabetes of the young type 1 (HNF4A)
- Maturity-onset diabetes of the young type 10 (INS)
- Maturity-onset diabetes of the young type 11 (BLK)
- Maturity-onset diabetes of the young type 2 (GCK)
- Maturity-onset diabetes of the young type 3 (HNF1A)
- Maturity-onset diabetes of the young type 4 (PDX1)
- Maturity-onset diabetes of the young type 5 (HNF1B)
- Maturity-onset diabetes of the young type 6 (NEUROD1)
- Maturity-onset diabetes of the young type 7 (KLF11)
- Maturity-onset diabetes of the young type 8 (CEL)
- Maturity-onset diabetes of the young type 9 (PAX4)
- Maturity-onset diabetes of the young ZFP57 related (ZFP57)
- McArdle disease (PYGM)
- McKusick-Kaufman syndrome (MKKS)
- McKusick-Kaufman-Syndrome (MKKS)
- McKusick-Kaufman-Syndrome (MKKS)
- Meckel syndrome 10 (B9D2)
- Meckel syndrome 9 (B9D1)
- Meckel syndrome type 1 (MKS1)
- Meckel syndrome type 3 (TMEM67)
- Meckel syndrome type 4 (CEP290)
- Meckel syndrome, type 8 (TCTN2)
- Mediterranean fever familial (MEFV)
- Medullary cystic kidney disease type 2 (UMOD)
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
- Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
- Megaloblastic anemia (NGS Panel)
- Megaloblastic anemia type 1 (AMN)
- Megaloblastic anemia type 1 (CUBN)
- Megalocornea, X-linked (CHRDL1)
- Melanoma cutaneous malignant type 8 (MITF)
- Melanoma, cutaneous malignant (CDK4)
- Melanoma, cutaneous malignant (CDKN2A)
- Melanoma, cutaneous malignant (CDKN2B)
- Melanoma, cutaneous malignant (MC1R)
- MELAS syndrome (MT-TF)
- MELAS syndrome (MT-TL1)
- Melnick-Needles syndrome (FLNA)
- Menkes disease (ATP7A)
- Mental retardation (ATP8A2)
- Mental retardation with language impairment and autistic features (FOXP1)
- Mental retardation, autosomal dominant type 12 (ARID1B)
- Mental retardation, autosomal dominant type 14 (ARID1A)
- Mental retardation, autosomal dominant type 15 (SMARCB1)
- Mental retardation, autosomal dominant type 16 (SMARCA4)
- Mental retardation, autosomal dominant type 9 (KIF1A)
- Mental retardation, autosomal recessive type 5 (NSUN2)
- Mental retardation, X-linked (NGS Panel)
- Mental retardation, X-linked (RAB40AL)
- Mental retardation, X-linked syndromic, Christianson type (SLC9A6)
- Mental retardation, X-linked syndromic, Nascimento-type (UBE2A)
- Mental retardation, X-linked syndromic, Raymond type (ZDHHC9)
- Mental retardation, X-linked type 19 (RPS6KA3)
- Mental retardation, X-linked type 30 (PAK3)
- Mental retardation, X-linked type 45 (ZNF81)
- Mental retardation, X-linked type 58 (TSPAN7)
- Mental retardation, X-linked type 72 (RAB39B)
- Mental retardation, X-linked type 89 (ZNF41)
- Mental retardation, X-linked type 91 (ZDHHC15)
- Mental retardation, X-linked type 92 (ZNF674)
- Mental retardation, X-linked type 96 (SYP)
- Mental retardation, X-linked type 97 (ZNF711)
- Mental retardation, X-linked, Siderius type (PHF8)
- Mental retardation, x-linked, syndromic type 14 (UPF3B)
- Mental retardation, X-linked, syndromic type 14 (UPF3B)
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (OPHN1)
- Mental retardation, X-linked, with isolated growth hormone deficiency (SOX3)
- Mental retardation, x-linked, with or without seizures , ARX-related (ARX)
- MERRF (Sanger Panel)
- MERRF syndrome (MT-TK)
- MERRF, 1. level m.8363G>A only (MT-TK)
- MERRF, 2. level m8356, m8363, m8361 in MTTK, m611, m15967 in MTTP (MT-TP)
- MERRF/MELAS overlap syndrome (MT-TS1)
- MERRF/MELAS overlap syndrome (MT-TS2)
- Metachromatic Leukodystrophy (ARSA)
- Metachromatic leukodystrophy, due to Saposin B deficiency (PSAP)
- Methylacetoacetic aciduria (ACAT1)
- Methylcobalamin deficiency CblG type (MTR)
- Methylmalonic aciduria and homocystinuria cb1D type (C2ORF25)
- Methylmalonic aciduria and homocystinuria cb1F type (LMBRD1)
- Methylmalonic aciduria cbIA type (MMAA)
- Methylmalonic aciduria cbIC type (MMACHC)
- Methylmalonic aciduria cblB complementation type vitamin B12-responsive (MMAB)
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MUT)
- Methylmalonic aciduria TCbIR type (CD320)
- Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (WDR62)
- Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (WDR62)
- Microcephaly 3, primary, autosomal recessive (CDK5RAP2)
- Microcephaly 4, primary, autosomal recessive (CEP152)
- Microcephaly 6, primary, autosomal recessive (CENPJ)
- Microcephaly Amish type (SLC25A19)
- Microcephaly Amish type (SLC25A19)
- Microcephaly and chorioretinopathy with or without mental retardation (TUBGCP6)
- Microcephaly and chorioretinopathy with or without mental retardation (TUBGCP6)
- Microcephaly AP4M1 related (AP4M1)
- Microcephaly CEP63 related (CEP63)
- Microcephaly MRE11A related (MRE11A)
- Microcephaly MRE11A related (MRE11A)
- Microcephaly MSMO1 related (MSMO1)
- Microcephaly MSMO1 related (MSMO1)
- Microcephaly Panel (NGS Panel)
- Microcephaly TUBB2B related (TUBB2B)
- Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR (KIF11)
- Microcephaly, epilepsy, and diabetes syndrome (IER3IP1)
- Microcephaly, epilepsy, and diabetes syndrome (IER3IP1)
- Microcephaly, primary autosomal recessive type 7 (STIL)
- Microcephaly, primary autosomal recessive type 8 (CEP135)
- Microcephaly, primary, autosomal recessive type 4 (CEP152)
- Microcephaly, primary, autosomal recessive type 5 (ASPM)
- Microcephaly, primary, autosomal recessive type I (MCPH1)
- Microcephaly, with symplified gyral pattern and insulin-dependant diabetes (GFM2)
- Microphthalmia syndromic type 2 (BCOR)
- Microphthalmia syndromic type 3 (SOX2)
- Microphthalmia syndromic type 4 (OTX2)
- Microphthalmia syndromic type 6 (BMP4)
- Microphthalmia syndromic type 6 (SIX6)
- Microphthalmia syndromic type 7 (HCCS)
- Microphthalmia syndromic type 8 (ALDH1A3)
- Microphthalmia syndromic type 9 (STRA6)
- Microphthalmia syndromic type 9 (STRA6)
- Microphthalmia syndromic type 9 (STRA6)
- Microphthalmia syndromic type 9 (STRA6)
- Microphthalmia, isolated type 2 (VSX2)
- Microphthalmia, isolated, type 3 (RAX)
- Microphthalmia, isolated, with coloboma type 3 (VSX2)
- Microspherophakia and/or megalocornea (LTBP2)
- Miller Dieker lissencephaly syndrome (YWHAE)
- Minicore myopathy with external ophthalmoplegia (RYR1)
- Mirror movements, familial congenital (RAD51)
- Mitochondrial complex I deficiency (C20orf7)
- Mitochondrial complex I deficiency (FOXRED1)
- Mitochondrial complex I deficiency (NDUFA1)
- Mitochondrial complex I deficiency (NDUFA11)
- Mitochondrial complex I deficiency (NDUFAF1)
- Mitochondrial complex I deficiency (NDUFAF3)
- Mitochondrial complex I deficiency (NDUFAF4)
- Mitochondrial complex I deficiency (NDUFB3)
- Mitochondrial complex I deficiency (NDUFB3)
- Mitochondrial complex I deficiency (NDUFS1)
- Mitochondrial complex I deficiency (NDUFS2)
- Mitochondrial complex I deficiency (NDUFS4)
- Mitochondrial complex I deficiency (NDUFS6)
- Mitochondrial complex I deficiency (NDUFV1)
- Mitochondrial complex I deficiency (NDUFV2)
- Mitochondrial complex I deficiency (NUBPL)
- Mitochondrial complex II deficiency (SDHAF1)
- Mitochondrial complex III deficiency (BCS1L)
- Mitochondrial complex III deficiency (TTC19)
- Mitochondrial complex III deficiency (UQCRB)
- Mitochondrial complex III deficiency (UQCRC2)
- Mitochondrial complex III deficiency (UQCRQ)
- Mitochondrial complex IV deficiency (FASTKD2)
- Mitochondrial complex V (ATP synthase) deficiency (MTATP6)
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (ATPAF2 )
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70)
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (ATP5E)
- Mitochondrial DNA depletion syndrome 4A (Alpers type (POLG)
- Mitochondrial DNA depletion syndrome (C10ORF2)
- Mitochondrial DNA depletion syndrome (DGUOK)
- Mitochondrial DNA depletion syndrome (RRM2B)
- Mitochondrial DNA depletion syndrome (RRM2B)
- Mitochondrial DNA depletion syndrome (SUCLA2)
- Mitochondrial DNA depletion syndrome (Sanger Panel)
- Mitochondrial DNA depletion syndrome (TK2)
- Mitochondrial DNA depletion syndrome (TK2)
- Mitochondrial DNA depletion syndrome 6 hepatocerebral type (MPV17)
- Mitochondrial DNA depletion syndrome 9 encephalomyopathic type with methylmalonic aciduria (SUCLG1)
- Mitochondrial modifier of deafness (TRMU)
- Mitochondrial myopathy - lactic acidosis [MELAS] (Sanger Panel)
- Mitochondrial myopathy and sideroblastic anemia 1 (PUS1)
- Mitochondrial myopathy and sideroblastic anemia 1 (PUS1)
- Mitochondrial myopathy, isolated (MT-TD)
- Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy (POLG)
- Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy (TYMP)
- Miyoshi myopathy (DYSF)
- MODY (NGS Panel)
- Mohr-Tranebjaerg syndrome (TIMM8A)
- Molybdenum cofactor deficiency type A (MOCS1)
- Molybdenum cofactor deficiency type B (MOCS2)
- Mowat-Wilson syndrome (ZEB2)
- Moyamoya disease type 2 (RNF213)
- MR and microcephaly with pontine and cerebellar hypoplasia (CASK)
- MR non-syndromic (ELK1)
- MR non-syndromic (KLF8)
- MR non-syndromic (NXF5)
- MR non-syndromic (ZCCHC12)
- MR X-linked 17/31 microduplication (HSD17B10)
- MR X-linked 21/34 (IL1RAPL1)
- MR X-linked syndromic 15 Cabezas type (CUL4B)
- MR X-linked syndromic type 10 (HSD17B10)
- MR X-linked syndromic type 16 (FGD1)
- MR X-linked type 41 (GDI1)
- MR X-linked type 44 (FTSJ1)
- MR X-linked type 46 (ARHGEF6)
- MR X-linked type 59 (AP1S2)
- MR X-linked type 63 (ACSL4)
- MR X-linked type 88 (AGTR2)
- MR X-linked type 90 (DLG3)
- MR X-linked type 93 (BRWD3)
- MR X-linked type 94 (GRIA3)
- MR X-linked type 95 (MAGT1)
- MR X-linked typev29 (ARX)
- MR X-linked with epilepsy (ATP6AP2)
- MR X-linked, associated with fragile site FRAXE (AFF2)
- MR X-linked, nonsyndromic (KIAA2022)
- MR X-Linked, syndromic type 13 (MECP2)
- MR X-linked, syndromic, Claes-Jensen type (KDM5C)
- MR X-linked, syndromic, Lubs type (MECP2)
- MR X-linked, Turner type (HUWE1)
- MR-hypotonic facies syndrome, X-linked (ATRX)
- Muckle-wells syndrome (NLRP3)
- Mucolipidosis II (GNPTAB)
- Mucolipidosis III (GNPTAB)
- Mucolipidosis IV (MCOLN1)
- Mucopolysaccharidosis (NGS Panel)
- Mucopolysaccharidosis type IH (IDUA)
- Mucopolysaccharidosis type II (IDS)
- Mucopolysaccharidosis type IIIA (SGSH)
- Mucopolysaccharidosis type IIIB (NAGLU)
- Mucopolysaccharidosis type IIIC (HGSNAT)
- Mucopolysaccharidosis type IIID (GNS)
- Mucopolysaccharidosis type IVA (GALNS)
- Mucopolysaccharidosis type IVB (GLB1)
- Mucopolysaccharidosis type IX (HYAL1)
- Mucopolysaccharidosis type VI (ARSB)
- Mucopolysaccharidosis type VII (GUSB)
- Multicentric carpotarsal osteolysis syndrome (MAFB)
- Multiple endocrine neoplasia type 1 (MEN1)
- Multiple endocrine neoplasia type IIA (RET)
- Multiple endocrine neoplasia type IIB (RET)
- Multiple pterygium syndrome lethal type (CHRNA1)
- Multiple pterygium syndrome lethal type (CHRND)
- Muscle glycogenosis (PHKA1)
- Muscle hypertrophy (MSTN)
- Muscular atrophy distal spinal AR type 4 (PLEKHG5)
- Muscular dystrophy type 1A (LAMA2)
- Muscular dystrophy type 1C (FKRP)
- Muscular dystrophy type 1D (LARGE)
- Muscular dystrophy with epidermolysis bullosa simplex (PLEC)
- Muscular dystrophy, Becker type (DMD)
- Muscular dystrophy, Duchenne type (DMD)
- Muscular dystrophy, oculopharyngeal (PABPN1)
- Myasthenia congenital with tubular aggregates 1 (GFPT1)
- Myasthenia limb-girdle familial (AGRN)
- Myasthenic syndrome associated with acetylcholine receptor deficiency (MUSK)
- Myasthenic syndrome due to mutation in SCN4A (SCN4A)
- Myasthenic syndrome fast channel congenital (CHRNA1)
- Myasthenic syndrome fast channel congenital (CHRND)
- Myasthenic syndrome, congenital (CHAT)
- Myasthenic syndrome, congenital (CHRNB1)
- Myasthenic syndrome, congenital (CHRNE)
- Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (RAPSN)
- Myasthenic syndrome, slow-channel congenital (CHRNA1)
- Myasthenic syndrome, slow-channel congenital (CHRND)
- Myoadenylate deaminase deficiency (AMPD1)
- Myoclonic epilepsy of lafora (EPM2A)
- Myoclonic epilepsy of lafora (NHLRC1)
- Myofibrillar myopathy (NGS Panel)
- Myoglobinuria acute recurrent (LPIN1)
- Myoglobinuria acute recurrent (LPIN1)
- Myopathy (MT-TQ)
- Myopathy due to Integrin 7A deficiency (ITGA7)
- Myopathy limb girdle with bone fragility (MTAP)
- Myopathy with fiber-type disproportion (ACTA1)
- Myopathy with fiber-type disproportion (SEPN1)
- Myopathy with lactic acidosis hereditary (ISCU)
- Myopathy, centronuclear (BIN1)
- Myopathy, centronuclear (DNM2)
- Myopathy, desmin-related, associated with mutation in the CRYAB gene (CRYAB)
- Myopathy, distal type 1 (MYH7)
- Myopathy, distal type 2 (MATR3)
- Myopathy, distal type 4 (FLNC)
- Myopathy, distal, with anterior tibial onset (DYSF)
- Myopathy, distal, with decreased Caveolin 3 (CAV3)
- Myopathy, early-onset, with fatal cardiomyopathy (TTN)
- Myopathy, lactic acidosis, and sideroblastic anemia 2 (YARS2)
- Myopathy, mitochondrial (MT-TM)
- Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (GFER)
- Myopathy, myofibrillar 6 (BAG3)
- Myopathy, myofibrillar, Desmin-related (DES)
- Myopathy, myofibrillar, ZASP-related (LDB3)
- Myopathy-rhabdomyolysis syndrome (NGS Panel)
- Myosclerosis, AR (COL6A2)
- Myosin storage myopathy (MYH7)
- Myotilinopathy (MYOT)
- Myotonia congenita (CLCN1)
- Myotonic dystrophy type 1 (DMPK)
- Myotonic dystrophy type 1 (DMPK)
- Myotonic dystrophy type 2 (ZNF9)
- Myotonic dystrophy type 2 (ZNF9)
- Myotubular myopathy (MTM1)
- Myotubular myopathy X-linked (MTM1)
- N-acetylglutamate synthase deficiency (NAGS)
- Nail-Patella syndrome (LMX1B)
- Nance-Horan syndrome (NHS)
- Naxos disease (JUP)
- NEB (NGS Panel)
- Nemaline myopathy (NGS Panel)
- Nemaline myopathy type 1 (TPM3)
- Nemaline myopathy type 3 (ACTA1)
- Nemaline myopathy type 4 (TPM2)
- Nemaline myopathy type 5 (TNNT1)
- Nemaline myopathy type 6 (KBTBD13)
- Nemaline myopathy type 7 (CFL2)
- Nephrogenic syndrome of inapproriate antidiuresis (AVPR2)
- Nephronophthisis (NGS Panel)
- Nephronophthisis 14 (ZNF423)
- Nephronophthisis 15 (CEP164)
- Nephronophthisis 9 (NEK8)
- Nephronophthisis type 1 (NPHP1)
- Nephronophthisis type 2 (INVS)
- Nephronophthisis type 3 (NPHP3)
- Nephronophthisis type 4 (NPHP4)
- Nephronophthisis type 7 (GLIS2)
- Nephronophthisis-like nephropathy 1 (XPNPEP3)
- Nephrosis, Finnish type (NPHS1)
- Nephrotic syndrome (NPHS2)
- Nephrotic syndrome 2 (NPHS1)
- Nephrotic syndrome 7 (DGKE)
- Netherton syndrome (SPINK5)
- Neuraminidase deficiency (NEU1)
- Neurofibromatosis type I (NF1)
- Neurofibromatosis type I (NF1)
- Neurofibromatosis type I (SPRED1)
- Neurofibromatosis type I (SPRED1)
- Neurofibromatosis type II (NF2)
- Neurofibromatosis type II (NF2)
- Neurogenic scapuloperoneal syndrome, Kaeser type (DES)
- Neuronopathy distal hereditary motor type IIA (HSPB8)
- Neuronopathy distal hereditary motor type IIB (HSPB1)
- Neuronopathy distal hereditary motor type V (GARS)
- Neuronopathy distal hereditary motor type VI (IGHMBP2)
- Neuronopathy distal hereditary motor type VIIB (DCTN1)
- Neuronopathy X-linked distal hereditary motor (ATP7A)
- Neuropathy distal motor, autosomal recessive (DNAJB2)
- Neuropathy with liability to pressure palsies [HNPP] (PMP22)
- Neuropathy, giant axonal (GAN)
- Neuropathy, hereditary sensory, type IE (DNMT1)
- Neutral lipid storage disease with myopathy (PNPLA2)
- Nicolaides Baraitser syndrome (SMARCA2)
- Niemann Pick disease type C1 (NPC1)
- Niemann-Pick disease type A/B (SMPD1)
- Niemann-Pick disease type C1 (NPC1)
- Niemann-Pick disease type C2 (NPC2)
- Night blindness, congenital stationary, type 1A, X-linked (NYX)
- Night blindness, congenital stationary, type 1B, AR (GRM6)
- Night blindness, congenital stationary, type 1E (GPR179)
- Night blindness, congenital stationary, type 2A, X-linked (CACNA1F)
- Night blindness, congenital stationary, type 2B, AR (CABP4)
- Night blindness, congenital stationary, type 3, AD (GNAT1)
- Night blindness, congenital stationary, type2, AD (PDE6B)
- Nonaka myopathy (GNE)
- Nonarteritic anterior ischemic optic neuropathy (GP1BA)
- Nonpolyposis colon cancer (PMS1)
- Noonan - CFC syndrome (NGS Panel)
- Noonan syndrom like (SHOC2)
- Noonan syndrome type 1 (PTPN11)
- Noonan syndrome type 3 (KRAS)
- Noonan syndrome type 4 (SOS1)
- Noonan syndrome type 5 (RAF1)
- Noonan syndrome type 6 (NRAS)
- Noonan syndrome type 7 (BRAF)
- Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia (CBL)
- Norrie disease (NDP)
- Nystagmus type 1 (FRMD7)
- Nystagmus type 6 (GPR143)
- Obesity, adrenal insufficiency, and red hair due to POMC deficiency (POMC)
- Obesity, early-onset, susceptibility to (POMC)
- Occipital horn syndrome (ATP7A)
- Occult macular dystrophy (RP1L1)
- Oculodentodigital dysplasia (GJA1)
- Oculomotor apraxia (NGS Panel)
- Odontoonychodermal dysplasia (WNT10A)
- Oguchi disease (GRK1)
- Oguchi disease (SAG)
- Oligo-astheno-teratozoospermia (NANOS1)
- Olmsted syndrome (TRPV3)
- Olmsted syndrome (TRPV3)
- Oogenesis dysfunction (SOHLH1)
- Opitz G syndrome (MID1)
- Opitz-Kaveggia syndrome (MED12)
- Optic atrophy (TMEM126A)
- Optic atrophy (OA) (NGS Panel)
- Optic atrophy 1 (OPA1)
- Optic atrophy 3 with cataract (OPA3)
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (OPA1)
- Opticoacoustic nerve atrophy with dementia (TIMM8A)
- Oral-facial-digital syndrome type 1 (OFD1)
- Ornithine transcarbamoylase deficiency (OTC)
- Ornithine transcarbamylase deficiency (OTC)
- Orofacial cleft type 11 (BMP4)
- Orofacial cleft type 5 (MSX1)
- Orotic aciduria (UMPS)
- Osteogenesis imperfecta (COL1A1)
- Osteogenesis imperfecta (NGS Panel)
- Osteogenesis imperfecta (COL1A2)
- Osteogenesis imperfecta type IX (PPIB)
- Osteogenesis imperfecta type V (IFITM5)
- Osteogenesis imperfecta type VII (CRTAP)
- Osteogenesis imperfecta type VIII (LEPRE1)
- Osteogenesis imperfecta type XI (FKBP10)
- Osteogenesis imperfecta with congenital joint contractures (PLOD2)
- Osteogenesis imperfecta, type XII (SP7)
- Osteogenesis imperfecta, type XIII (BMP1)
- Osteopathia striata with cranial sclerosis (FAM123B)
- Osteopetrosis autosomal recessive type 1 (TCIRG1)
- Osteopetrosis autosomal recessive type 2 (TNFSF11)
- Osteopetrosis autosomal recessive type 4 (CLCN7)
- Osteopetrosis autosomal recessive type 5 (OSTM1)
- Osteopetrosis autosomal recessive type 6 (PLEKHM1)
- Osteopetrosis autosomal recessive type 7 (TNFRSF11A)
- Osteopetrosis of infancy, malignant (SNX10)
- Osteopetrosis type 3 (CA2)
- Osteopetrosis type autosomal dominant type 1 (CLCN7)
- Osteoporosis pseudoglioma syndrome (LRP5)
- Otofaciocervical syndrome (EYA1)
- Otopaladigital syndrome type1 (FLNA)
- Otopaladigital syndrome type 2 (FLNA)
- Otospondylomegaepiphyseal dysplasia (COL11A2)
- Pallister-Hall syndrome (GLI3)
- Pancreatic agenesis and congenital heart defects (GATA6)
- Pancreatitis (CFTR)
- Pancreatitis (CTRC)
- Pancreatitis (PRSS1)
- Pancreatitis (NGS Panel)
- Pancreatitis (SPINK1)
- Panhypopituitarism, X-linked (SOX3)
- Pantothenate kinase-associated neurodegeneration (PANK2)
- Papillon-Lefevre syndrome (CTSC)
- Papillorenal syndrome (PAX2)
- Paragangliomas type 4 (SDHB)
- Paramyotonia congenita of von Eulenburg (SCN4A)
- Parietal foramina type 1 (MSX2)
- Parietal Foramina type 2 (ALX4)
- PARK1 Parkinsonism (SNCA)
- PARK13 Parkinsonism (HTRA2)
- PARK14 Parkinsonism (PLA2G6)
- PARK15 Parkinsonism (FBXO7)
- PARK17 Parkinsonism (VPS35)
- PARK2 Parkinsonism (PARK2)
- PARK6 Parkinsonism (PINK1)
- PARK7 Parkinsonism (PARK7)
- PARK8 Parkinsonism (LRRK2)
- PARK9 Parkinsonism (ATP13A2)
- Parkinson panel I (Sanger Panel)
- Parkinson panel II (recessive pedigree with typical phenotype) (Sanger Panel)
- Parkinson panel III (recessice pedigree with atypical phenotype) (Sanger Panel)
- Parkinsonism-Dystonia, infantile (SLC6A3)
- Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia (SLC2A1)
- Paroxysmal extreme pain disorder (SCN9A)
- Partington syndrome (ARX)
- Patterned dystrophy of retinal pigment epithelium (PRPH2)
- Peeling skin syndrome (CDSN)
- Peeling skin syndrome type A (CHST8)
- Peeling skin syndrome, acral type (TGM5)
- Pelizaeus-Merzbacher disease (PLP1)
- Pelizaeus-Merzbacher disease (SLC16A2)
- Pelizeaus-Merzbacher-like disease type 1 (GJC2)
- Pendred syndrome (SLC26A4)
- Pendred syndrome (SLC26A4)
- Pentosuria (DCXR)
- Periodic fever, familial autosomal dominant (TNFRSF1A)
- Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease (SOX10)
- Periventricular heterotopia with microcephaly (ARFGEF2)
- Perlman Syndrome (DIS3L2)
- Peroxisome biogenesis disorder 14B (PEX11B)
- Perrault syndrome (HSD17B4)
- Peters Anomaly (CYP1B1)
- Peters-Plus syndrome (B3GALTL)
- Peutz-Jeghers syndrome (STK11)
- Phenylketonuria (PAH)
- Pheochromocytoma panel (NGS Panel)
- Pheochromocytoma type 1 (SDHA)
- Pheochromocytoma type 2 (SDHB)
- Pheochromocytoma type 3 (SDHC)
- Pheochromocytoma type 4 (SDHD)
- Pheochromocytoma type 5 (SDHAF2)
- Pheochromocytoma type 6 (VHL)
- Pheochromocytoma type 7 (PRKAR1A)
- Pheochromocytoma type 8 (TMEM127)
- Pheochromocytoma type 9 (MAX)
- Phosphoglycerate dehydrogenase deficiency (PHGDH)
- Phosphoglycerate kinase 1 deficiency (PGK1)
- Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)
- Pitt-Hopkins syndrome (NRXN1)
- Pitt-Hopkins syndrome (TCF4)
- Pituitary adenoma, growth hormone secreting (GNAS)
- Pituitary hormone deficiency, combined type 1 (POU1F1)
- Pituitary hormone deficiency, combined type 2 (PROP1)
- Pituitary hormone deficiency, combined type III (LHX3)
- Pituitary hormone deficiency, combined type IV (LHX4)
- Plasminogen activator inhibitor type 1 (SERPINE1)
- Platelet disorder familial with associated myeloid malignancy (RUNX1)
- Pleuropulmonary blastoma (DICER1)
- Polycystic kidney (NGS Panel)
- Polycystic kidney disease type 1, AD (PKD1)
- Polycystic kidney disease type 1, AR (PKHD1)
- Polycystic kidney disease type 2, AD (PKD2)
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (TREM2)
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (TYROBP)
- Polymicrogyria asymmetric (TUBB2B)
- Polymicrogyria bilateral occipital (NR2E1)
- Polymicrogyria bilateral occipital (NR2E1)
- Polyposis syndrome, hereditary mixed (GREM1)
- Polyposis syndrome, hereditary mixed type 2 (BMPR1A)
- Pompe disease (GAA)
- Pompe disease (GAA)
- Pontocerebellar hypoplasia type 1A (VRK1)
- Pontocerebellar hypoplasia type 1B (EXOSC3)
- Pontocerebellar hypoplasia, type 6 (RARS2)
- Porencephaly 2 (COL4A2)
- Porencephaly, familial (COL4A1)
- Porphyria cutanea tarda (UROD)
- Porphyria, acute intermittent (HMBS)
- Postaxial acrofacial dysostosis (DHODH)
- Potassium-aggravated myotonia (SCN4A)
- Prader-Willi syndrome (chr. 15q11)
- Premature ovarian failure type 1 (FMR1)
- Primary ciliary dyskinesia (NGS Panel)
- Primary ciliary dyskinesia type 1 (DNAI1)
- Primary ciliary dyskinesia type 11 (RSPH4A)
- Primary ciliary dyskinesia type 12 (RSPH9)
- Primary ciliary dyskinesia type 13 (DNAAF1)
- Primary ciliary dyskinesia type 14 (CCDC39 )
- Primary ciliary dyskinesia type 15 (CCDC40)
- Primary ciliary dyskinesia type 16 (DNAL1)
- Primary ciliary dyskinesia type 17 (CCDC103)
- Primary ciliary dyskinesia type 18 (HEATR2)
- Primary ciliary dyskinesia type 19 (LRRC6)
- Primary ciliary dyskinesia type 2 (DNAAF3)
- Primary ciliary dyskinesia type 20 (CCDC114)
- Primary ciliary dyskinesia type 3 (DNAH5)
- Primary ciliary dyskinesia type 5 (HYDIN )
- Primary ciliary dyskinesia type 6 (NME8)
- Primary ciliary dyskinesia type 7 (DNAH11)
- Primary ciliary dyskinesia type 9 (DNAI2 )
- Progressive external ophthalmoplegia (PEO) (NGS Panel)
- Progressive external ophthalmoplegia with mitochondrial deletions autosomal recessive (POLG)
- Progressive external ophthalmoplegia with mitochondrial deletions type 1 (POLG)
- Progressive external ophthalmoplegia with mitochondrial deletions type 1 (POLG)
- Progressive external ophthalmoplegia with mitochondrial deletions type 2 (SLC25A4)
- Progressive external ophthalmoplegia with mitochondrial deletions type 3 (C10ORF2)
- Progressive external ophthalmoplegia with mitochondrial deletions type 3 (C10ORF2)
- Progressive external ophthalmoplegia with mitochondrial deletions type 3 (C10ORF2)
- Progressive external ophthalmoplegia with mitochondrial deletions type 4 (POLG2)
- Progressive external ophthalmoplegia with mitochondrial deletions type 4 (POLG2)
- Progressive external ophthalmoplegia with mitochondrial deletions type 5 (RRM2B)
- Progressive external ophthalmoplegia with mitochondrial deletions type 5 (RRM2B)
- Progressive external ophthalmoplegia with mitochondrial deletions, AR (POLG)
- Progressive familial heart block (TRPM4)
- Progressive hearing loss (P2RX2)
- Progressive myoclonus epilepsy (PRICKLE1)
- Progressive myoclonus epilepsy-3 (KCTD7)
- Propionic acidemia (PCCA)
- Propionic acidemia (PCCB)
- Prosaposin deficiency (PSAP)
- Prostate cancer (BRCA2)
- Prostate cancer (ELAC2)
- Prostate cancer (RNASEL)
- Prostate cancer (SRD5A2)
- Protein C Deficiency, AD (PROC)
- Protein S Deficiency, AD (PROS1)
- Proud syndrome (ARX)
- Pseudoachondroplasia (COMP)
- Pseudohypoaldosteronism type I, autosomal dominant (NR3C2)
- Pseudohypoaldosteronism, type I, autosomal recessive (SCNN1A)
- Pseudohypoaldosteronism, type I, autosomal recessive (SCNN1B)
- Pseudohypoaldosteronism, type I, autosomal recessive (SCNN1G)
- Pseudohypoaldosteronism, type IID (KLHL3)
- Pseudohypoaldosteronism, type IIE (CUL3)
- Pterygium syndrome (CHRNG)
- Pulmonary hypertension of the newborn, persistent (CRHR1)
- Pycnodysostosis (CTSK)
- Pyridoxine-dependent epilepsy (ALDH7A1)
- Pyruvate carboxylase deficiency (PC)
- Pyruvate carboxylase deficiency (PC)
- Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
- Pyruvate dehydrogenase E1-beta deficiency (PDHB)
- Pyruvate dehydrogenase E2 deficiency (DLAT)
- Pyruvate dehydrogenase phosphatase deficiency (PDP1)
- Pyruvate kinase deficiency with hemolytic anemia (PKLR)
- RAPADILINO syndrome (RECQL4)
- Rapp-Hodgkin syndrome (TP63)
- Refsum disease (PEX7)
- Refsum disease (PHYH)
- Renal carcinoma chromophobe somatic (FLCN)
- Renal cell carcinoma, papillary type 1 (MET)
- Renal cystic dysplasia (BICC1)
- Renal tubular acidosis with deafness (ATP6V1B1)
- Renal tubular dysgenesis (REN)
- Renpenning syndrome (PQBP1)
- Restrictive dermopathy, lethal (ZMPSTE24)
- Retinal cone dystrophy 3B (KCNV2)
- Retinal cone dystrophy 4 (CACNA2D4)
- Retinal dystrophy (USH2A)
- Retinal dystrophy screen - AD (Sanger Panel)
- Retinal dystrophy screen - AR (Sanger Panel)
- Retinal dystrophy, early-onset severe (ABCA4)
- Retinal nonattachment nonsyndromic congenital (ATOH7)
- Retinitis pigmentosa (AD) (NGS Panel)
- Retinitis pigmentosa (AR) (NGS Panel)
- Retinitis pigmentosa 7 digenic (ROM1)
- Retinitis pigmentosa juvenile (LRAT)
- Retinitis pigmentosa type 1, autosomal dominant (RP1)
- Retinitis pigmentosa type 10, autosomal dominant (IMPDH1)
- Retinitis pigmentosa type 11, autosomal dominant (PRPF31)
- Retinitis pigmentosa type 12, autosomal recessive (CRB1)
- Retinitis pigmentosa type 13, autosomal dominant (PRPF8)
- Retinitis pigmentosa type 17, autosomal dominant (CA4)
- Retinitis pigmentosa type 18, autosomal dominant (PRPF3)
- Retinitis pigmentosa type 19, autosomal dominant (ABCA4)
- Retinitis pigmentosa type 19, autosomal recessive (ABCA4)
- Retinitis pigmentosa type 2 X-linked (RP2)
- Retinitis pigmentosa type 20, autosomal recessive (RPE65)
- Retinitis pigmentosa type 23 X-linked (OFD1)
- Retinitis pigmentosa type 25, autosomal recessive (EYS)
- Retinitis pigmentosa type 26, autosomal recessive (CERKL)
- Retinitis pigmentosa type 27, autosomal dominant (NRL)
- Retinitis pigmentosa type 28, autosomal recessive (FAM161A)
- Retinitis pigmentosa type 3 X-linked (RPGR)
- Retinitis pigmentosa type 30, autosomal dominant (FSCN2)
- Retinitis pigmentosa type 31, autosomal dominant (TOPORS)
- Retinitis pigmentosa type 33, autosomal dominant (SNRNP200)
- Retinitis pigmentosa type 35, autosomal dominant (SEMA4A)
- Retinitis pigmentosa type 35, autosomal recessive (SEMA4A)
- Retinitis pigmentosa type 36, autosomal recessive (PRCD)
- Retinitis pigmentosa type 37, autosomal dominant (NR2E3)
- Retinitis pigmentosa type 37, autosomal recessive (NR2E3)
- Retinitis pigmentosa type 38, autosomal recessive (MERTK)
- Retinitis pigmentosa type 39, autosomal recessive (USH2A)
- Retinitis pigmentosa type 4, autosomal dominant (RHO)
- Retinitis pigmentosa type 4, autosomal recessive (RHO)
- Retinitis pigmentosa type 40, autosomal recessive (PDE6B)
- Retinitis pigmentosa type 41, autosomal recessive (PROM1)
- Retinitis pigmentosa type 42, autosomal dominant (KLHL7)
- Retinitis pigmentosa type 43, autosomal recessive (PDE6A)
- Retinitis pigmentosa type 44, autosomal dominant (RGR)
- Retinitis pigmentosa type 44, autosomal recessive (RGR)
- Retinitis pigmentosa type 45, autosomal recessive (CNGB1)
- Retinitis pigmentosa type 46, autosomal recessive (IDH3B)
- Retinitis pigmentosa type 47, autosomal recessive (SAG)
- Retinitis pigmentosa type 48, autosomal dominant (GUCA1B)
- Retinitis pigmentosa type 49, autosomal recessive (CNGA1)
- Retinitis pigmentosa type 50, autosomal dominant (BEST1)
- Retinitis pigmentosa type 51, autosomal recessive (TTC8)
- Retinitis pigmentosa type 53, autosomal recessive (RDH12)
- Retinitis pigmentosa type 54, autosomal recessive (C2ORF71)
- Retinitis pigmentosa type 55, autosomal recessive (ARL6)
- Retinitis pigmentosa type 56, autosomal recessive (IMPG2)
- Retinitis pigmentosa type 57, autosomal recessive (PDE6G)
- Retinitis pigmentosa type 58, autosomal recessive (ZNF513)
- Retinitis pigmentosa type 61, autosomal recessive (CLRN1)
- Retinitis pigmentosa type 7, autosomal dominant (PRPH2)
- Retinitis pigmentosa type 9, autosomal dominant (RP9)
- Retinitis pigmentosa, juvenile, autosomal recessive (SPATA7)
- Retinitis pigmentosatype 14, autosomal recessive (TULP1)
- Rett syndrome (MECP2)
- Rett syndrome preserved speech variant (MECP2)
- Rett syndrome, congenital variant (FOXG1)
- Revesz syndrome (TINF2)
- Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
- Riboflavinresponsive multiple acyl-CoA dehydrogenase deficiency (ETFDH)
- Rickets, vitamin D-resistant, type IIA (VDR)
- Rieger syndrome (CYP1B1)
- Rieger syndrome (FOXC1)
- Rieger syndrome (PAX6)
- Rieger syndrome (PITX2)
- Rigid spine muscular dystrophy (SEPN1)
- Rippling muscle disease (CAV3)
- Roberts syndrome (ESCO2)
- Robinow syndrome (ROR2)
- Robinow syndrome (WNT5A)
- Rolandic epilepsy, mental retardation, and speech dyspraxia (SRPX2)
- Rothmund-Thomson syndrome (RECQL4)
- Roussy-Levy syndrome (PMP22)
- Rubinstein-Taybi syndrome (CREBBP)
- Rubinstein-Taybi syndrome (EP300)
- RYR1 (full sequencing) (NGS Panel)
- Saethre-Chotzen syndrome (TWIST1)
- Sandhoff disease (HEXB)
- SC Phocomelia syndrome (ESCO2)
- SCA panel (A) [SCA1, 2, 3, 4, 5, 6, 7, 8] (Sanger Panel)
- SCA panel (B) [SCA 10, 11, 12, 13, 14, 15, 17, 18, 23, 27, 28] (Sanger Panel)
- Scapuloperoneal myopathy, MYH7 related (MYH7)
- Scheie syndrome (IDUA)
- Schindler disease (NAGA)
- Schwartz-Jampel syndrome (HSPG2)
- SCID autosomal recessive T negative B positive type (JAK3)
- Seckel syndrome 2 (RBBP8)
- Seckel syndrome 4 (CENPJ)
- Seckel syndrome 5 (CEP152)
- Seckel syndrome 6 (CEP63)
- Sengers syndrome (AGK)
- Senior-Loken syndrome 5 (IQCB1)
- Senior-Loken syndrome 7 (SDCCAG8)
- Sensory ataxic neuropathy dysarthria and PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (C10ORF2)
- Sensory ataxic neuropathy dysarthria, and ophthalmoparesis (POLG)
- Septooptic dysplasia (HESX1)
- SERKAL syndrome (WNT4)
- SERKAL syndrome (WNT4)
- SESAME syndrome (KCNJ10)
- Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (NHEJ1)
- Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (NHEJ1)
- Short QT syndrome type 1 (KCNH2)
- Short QT syndrome type 2 (KCNQ1)
- Short QT syndrome type 3 (KCNJ2)
- Short stature (SHOX)
- Shprintzen-Goldberg syndrome (SKI)
- Shwachman-Diamond syndrome (SBDS)
- Sialidosis (NEU1)
- Sialuria, Finish type (SLC17A5)
- Sick sinus syndrome (SCN5A)
- Sick sinus syndrome type 3 (MYH6)
- Sickle cell anemia (HBB)
- Silver-Russell syndrome (chr. 11p15)
- Simpson-Golabi-Behmel syndrome type 1 (GPC3)
- Sjogren-Larsson syndrome (ALDH3A2)
- Skin fragility-woolly hair syndrome (DSP)
- Skin hair eye pigmentation 6 (SLC24A4)
- Slowed nerve conduction velocity AD (ARHGEF10)
- Smith-Magenis syndrome (RAI1)
- Sotos syndrome (NSD1)
- Sotos-like syndrome (NFIX)
- Spastic ataxia Charlevoix-Saguenay type (SACS)
- Spastic paraplegia (SPG) (AD) (NGS Panel)
- Spastic paraplegia (SPG) (AR) (NGS Panel)
- Speech-language disorder type 1 (FOXP2)
- SPG1 (L1CAM)
- SPG10 (KIF5A)
- SPG11 (SPG11)
- SPG12 (RTN2)
- SPG13 (HSPD1)
- SPG15 (ZFYVE26)
- SPG17 (BSCL2)
- SPG2 (PLP1)
- SPG20 (SPG20)
- SPG21 (SPG21)
- SPG30 (KIF1A)
- SPG31 (REEP1)
- SPG33 (ZFYVE27)
- SPG35 (FA2H)
- SPG39 (PNPLA6)
- SPG3A (ATL1)
- SPG4 (SPAST)
- SPG42 (SLC33A1)
- SPG44 (GJC2)
- SPG50 (AP4M1)
- SPG5A (CYP7B1)
- SPG6 (NIPA1)
- SPG7 (SPG7)
- SPG8 (KIAA0196)
- SPGF4 (SYCP3)
- SPGF5 (AURKC)
- SPGF6 (SPATA16)
- SPGF7 (CATSPER1)
- SPGF8 (NR5A1)
- SPGF9 (DPY19L2)
- Spheroid body myopathy (TTID)
- Spina bifida folate sensitive (MTRR)
- Spinal and bulbar muscular atrophy X-linked (AR)
- Spinal muscular atrophy, distal, X-linked 3 (ATP7A)
- Spinal muscular atrophy, lower extremity, autosomal dominant (DYNC1H1)
- Spinal muscular atrophy, type I, II, III, IV (SMN1)
- Spinocerebellar ataxia AR with axonal neuropathy (TDP1)
- Spinocerebellar ataxia AR with axonal neuropathy (TDP1)
- Spinocerebellar ataxia infantile-onset (C10ORF2)
- Spinocerebellar ataxia type 1 (ATXN1)
- Spinocerebellar ataxia type 10 (ATXN10)
- Spinocerebellar ataxia type 11 (TTBK2)
- Spinocerebellar ataxia type 12 (PPP2R2B)
- Spinocerebellar ataxia type 13 (KCNC3)
- Spinocerebellar ataxia type 14 (PRKCG)
- Spinocerebellar ataxia type 15 (ITPR1)
- Spinocerebellar ataxia type 17 (TBP)
- Spinocerebellar ataxia type 18 (IFRD1)
- Spinocerebellar ataxia type 2 (ATXN2)
- Spinocerebellar ataxia type 23 (PDYN)
- Spinocerebellar ataxia type 27 (FGF14)
- Spinocerebellar ataxia type 28 (AFG3L2)
- Spinocerebellar ataxia type 3 (ATXN3)
- Spinocerebellar ataxia type 31 (BEAN1)
- Spinocerebellar ataxia type 4 (BEAN1)
- Spinocerebellar ataxia type 5 (SPTBN2)
- Spinocerebellar ataxia type 6 (CACNA1A)
- Spinocerebellar ataxia type 7 (ATXN7)
- Spinocerebellar ataxia type 8 (ATXN8OS)
- Spinocerebellar ataxia type 9 (ADCK3)
- Spondylocostal dysostosis, autosomal recessive type II (MESP2)
- Spondylocostal dysostosis, autosomal recessive type III (LFNG)
- Spondyloepiphyseal dysplasia tarda with progressive arthropathy (WISP3)
- Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3)
- Spondylometaepiphyseal dysplasia, short limb-hand type (DDR2)
- Stargardt Disease type 1 (ABCA4)
- Stargardt Disease type 1 (CNGB3)
- Stargardt Disease type 3 (ELOVL4)
- Stargardt Disease type 4 (PROM1)
- Stickler syndrome (NGS Panel)
- Stickler syndrome type I (COL2A1)
- Stickler syndrome type II (COL11A1)
- Stickler syndrome type III (COL11A2)
- Stickler syndrome, AR (COL9A1)
- Stickler syndrome, type V (COL9A2)
- Stocco dos Santos X-linked mental retardation syndrome (SHROOM4)
- Stuve-Wiedemann syndrome (LIFR)
- Sulfatase deficiency (SUMF1)
- SYNE1 (NGS Panel)
- SYNE2 (NGS Panel)
- Systemic lupus erythematosus (DNASE1)
- Tarui disease (PFKM)
- Tay-Sachs disease (HEXA)
- Tay-Sachs disease AB variant (GM2A)
- Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber Type 1 (ENG)
- Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber Type 2 (ACVRL1)
- Terminal osseous dysplasis (FLNA)
- Tetraamelia, autosomal recessive (WNT3)
- Tetralogy of Fallot (GATA6)
- Thalassemia, alpha (HBA1)
- Thalassemia, alpha (HBA2)
- Thiamine metabolism dysfunction syndrome 2 (SLC19A3)
- Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type (SLC25A19)
- Three M syndrome type 1 (CUL7)
- Thrombocytopenia (NGS Panel)
- Thrombocytopenia congenital amegakaryocytic (MPL)
- Thrombocytopenia type 2 (MASTL)
- Thrombocytopenia with beta thalassemia X-linked (GATA1)
- Thrombocytopenia X linked (GATA1)
- Thrombocytopenia X linked intermittent (WAS)
- Thrombotic thrombocytopenic purpura (ADAMTS13)
- Thromocytopenia-Absent-Radius-Syndrome (RBM8A)
- Thyroid carcinoma Hurthle cell (NDUFA13)
- Thyroid dyshormonogenesis 1 (SLC5A5)
- Thyroid dyshormonogenesis 2A (TPO)
- Thyroid dyshormonogenesis 3 (TG)
- Thyroid hormone metabolism abnormal (SECISBP2)
- Thyroid hormone resistance (THRB)
- Thyrotoxic periodic paralysis type 1 (CACNA1S)
- Tibial muscular dystrophy, tardive (LDB3)
- Tibial muscular dystrophy, tardive (TTN)
- Tietz albinism-deafness syndrome (MITF)
- Toe syndactyly, telecanthus, and anogenital and renal malformations (FAM58A)
- Tooth agenesis, selective type 1 (MSX1)
- Tooth agenesis, selective type 3 (PAX9)
- Tourette syndrome (SLITRK1)
- Townes-Brocks syndrome (SALL1)
- Townes-Brocks syndrome (SALL4)
- TPMT deficiency (TPMT)
- Transcobalamin II deficiency (TCN2)
- Trichohepatoenteric syndrome 1 (TTC37)
- Trichohepatoenteric syndrome 2 (SKIV2L)
- Trichorhinophalangeal syndrome, type I (TRPS1)
- Trichothiodystrophy, nonphotosensitive type 1 (MPLKIP)
- Trifunctional protein deficiency (HADHA)
- Trifunctional protein deficiency (HADHB)
- Tuberous sclerosis (TSC1)
- Tuberous sclerosis (TSC2)
- Tuberous sclerosis [TS] (Sanger Panel)
- Tylosis with esophageal cancer (RHBDF2)
- Tylosis with esophageal cancer (RHBDF2)
- Tyrosinemia type I (FAH)
- Ullrich congenital muscular dystrophy (COL6A1)
- Ullrich congenital muscular dystrophy (NGS Panel)
- Ullrich congenital muscular dystrophy (COL6A2)
- Ullrich congenital muscular dystrophy (COL6A3)
- Ulna and fibula, absence of, with severe limb deficiency (WNT7A)
- Ulnar-Mammary syndrome (TBX3)
- Unverricht-Lundborg disease (CSTB)
- Urea cycle disorder (NGS Panel)
- Urofacial syndrome (LRIG2)
- Usher syndrome type 3A (CLRN1)
- Usher syndrome type IJ (CIB2)
- Usher syndrome, type 1D (PCDH15)
- Usher syndrome, type 1D/F digenic (PCDH15)
- UV-sensitive syndrome 3 (UVSSA)
- Ventricular fibrillation, paroxysmal familial type 1 (SCN5A)
- Ventricular tachycardia, catecholaminergic polymorphic type 1 (RYR2)
- Ventricular tachycardia, catecholaminergic polymorphic type 2 (CASQ2 )
- Ventricular tachycardia, catecholaminergic polymorphic type 3 (CALM2)
- Ventricular tachycardia, catecholaminergic polymorphic type 4 (CALM1)
- Vesicoureteral reflux 2 (ROBO2)
- Vitamin E familial isolated deficiency of (TTPA)
- Vitreoretinochoroidopathy (BEST1)
- von Hippel-Lindau syndrome (VHL)
- von Willebrand disease (VWF)
- von Willebrand disease platelet type (GP1BA)
- Von-Gierke disease (G6PC)
- Waardenburg syndrome, type 1 (PAX3)
- Waardenburg syndrome, type 2E, with or without neurologic involvement (SOX10)
- Waardenburg syndrome, type 4C (SOX10)
- Waardenburg syndrome/albinism, digenic (TYR)
- Waardenburg syndrome/Hirschsprung disease (EDNRB)
- Waardenburg syndrome/ocular albinism, digenic (MITF)
- Wagner syndrome (VCAN )
- Walker-Warburg syndrome (FKRP)
- Walker-Warburg syndrome (FKTN)
- Walker-Warburg syndrome (ISPD)
- Walker-Warburg syndrome (LARGE)
- Walker-Warburg syndrome (POMT1)
- Walker-Warburg syndrome (POMT2)
- Walker-Warburg syndrome [WWS] (Sanger Panel)
- Warburg micro syndrome type 1 (RAB3GAP1)
- Warburg micro syndrome type 1 (RAB3GAP1)
- Warburg micro syndrome type 1 (RAB3GAP1)
- Weaver syndrome (NSD1)
- Weill-Marchesani syndrome - AD (FBN1)
- Weill-Marchesani syndrome - AR (ADAMTS10)
- Weill-Marchesani syndrome 3 (LTBP2)
- Wiedemann-Steiner syndrome (MLL)
- Wilson disease (ATP7B)
- Witkop syndrome (MSX1)
- Wolcott-Rallison syndrome (EIF2AK3)
- Wolcott-Rallison syndrome (EIF2AK3)
- Wolff -Parkinson-White syndrome (PRKAG2)
- Wolfram syndrome (CISD2)
- Wolfram syndrome (WFS1)
- Wolfram syndrome type 1 (WFS1)
- Wolfram syndrome type 2 (CISD2)
- Wolman disease (LIPA)
- Zellweger syndrome (PEX1)
- Zellweger syndrome (NGS Panel)
- Zellweger syndrome (PEX10)
- Zellweger syndrome (PEX12)
- Zellweger syndrome (PEX13)
- Zellweger syndrome (PEX14)
- Zellweger syndrome (PEX16)
- Zellweger syndrome (PEX19)
- Zellweger syndrome (PEX2)
- Zellweger syndrome (PEX26)
- Zellweger syndrome (PEX3)
- Zellweger syndrome (PEX5)
- Zellweger syndrome (PEX6)