Search all Panels | Centogene - The Rare Disease Company

Aicardi-Goutieres syndrome (NGS Panel)
- GENES: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Albinism (NGS Panel)
- GENES: GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Alport syndrome (NGS Panel)
- GENES: COL4A3, COL4A4, COL4A5
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Arrhythmia, familial (NGS Panel)
- GENES: AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Arrhythmogenic Right Ventricular Cardiomyopathy (NGS Panel)
- GENES: DSP, DSG2, DSC2, JUP, PKP2, RYR2, TMEM43
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Arthrogryposis (NGS Panel)
- GENES: TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
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)
- GENES: GBA, CFTR, HEXA, IKBKAP, ASPA, G6PC, ABCC8, MCOLN1,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Bardet Biedl panel (NGS Panel)
- GENES: ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Breast ovarian cancer (NGS Panel)
- GENES: ATM, BRCA1, BRCA2, BARD1, BRIP1, CDH1, CHEK2, MRE11A,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Brugada syndrome (NGS Panel)
- GENES: CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B,SCN3B,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Cardiomyopathy dilated (NGS Panel)
- GENES: ACTC1, DES, LAMP2, LDB3, LMNA, MT-ND1, MT-ND5, MT-ND6,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Cardiomyopathy hypertrophic (NGS Panel)
- GENES: ACTC1, CAV3, GLA, LAMP2, MYBPC3, MYH6, MYH7, MYL2,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Cataract panel AR (NGS Panel)
- GENES: CDP1, CRYAA, CRYAB, CRYBB1, CRYBB3, FYCO1, GCNT2,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Catecholaminergic polymorphic ventricular tachycardia (NGS Panel)
- GENES: RYR2, CASQ2, KCNJ2
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Central hypoventilation syndrome (NGS Panel)
- GENES: RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Cerebellar ataxia, CAP (NGS Panel)
- GENES: ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Ceroid lipofuscinosis (NGS Panel)
- GENES: PPT1, TPP1, CLN3, CLN5, CLN6, MFSD8, CLN8, CTSD
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
CMT neuropathy axonal AD (NGS Panel)
- GENES: AARS, ARHGEF10, DNM2, GAN, GARS, DYNC1H1, HSPB8,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
CMT neuropathy demyelinating (NGS Panel)
- GENES: SOX10, CTDP1, EGR2, FGD4, FIG4, GDPA1, GJB1, LITAF,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Coffin-Siris Syndrome (NGS Panel)
- GENES: ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Colon cancer (NGS Panel)
- GENES: APC, BMPR1A, ENG, EPCAM, FLCN, MLH1, MSH2, MSH3, MSH6,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Cone-rod and cone dystrophy CORD AD (NGS Panel)
- GENES: AILP1, BEST1, CRX, GUCA1A, GUCY2D, PITPNM3, PROM1,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Cone-rod and cone dystrophy CORD AR (NGS Panel)
- GENES: ABCA4, ADAM9, CACNA2D4, CERKL, CDHR1, CNGB3, KCNV2,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Congenital myasthenic syndrome (NGS Panel)
- GENES: AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Congenital myopathy (NGS Panel)
- GENES: ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Deafness, non-syndromic sensorineural AD (NGS Panel)
- GENES: CCDC50, COCH, COL11A2, DFNA5, DIAPH1, EYA4, GJB2,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Dejerine-Sottas Syndrome [DSS] (Sanger Panel)
- GENES: MPZ, PMP22, PRX, EGR2, GJB1
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Dementia - Panel (Sanger Panel)
- GENES: APP, PSEN1, PSEN2, UBE3A, PRNP, GRN, MAPT, TARDBP
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Dravet syndrome (NGS Panel)
- GENES: SCN1A, GABRG2, SCN2A, SCN9A
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Dystonia panel II (DOPA-responsive dystonia) (Sanger Panel)
- GENES: GCH1, TH, SPR
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Dystonia panel III (paroxysomal dystonia) (NGS Panel)
- GENES: MR1, DYT10, SLC2A1, CIZ1
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Dystonia panel I (isolated torsion dystonia) (Sanger Panel)
- GENES: TOR1A, THAP1
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Dystroglycanopathy panel (NGS Panel)
- GENES: POMT1, POMT2, FKRP, FKTN, POMGNT1, LARGE
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Early infantile epileptic encephalopathy (NGS Panel)
- GENES: ARX, CDKL5, SLC25A22, STXB1, SPTAN1, SCN1A, KCNQ2,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Ehlers Danlos syndrome (NGS Panel)
- GENES: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Enzyme screening for storage diseases (Sanger Panel)
- GENES: MAN2B1, MANBA, FUCA1, GBA, GLB1, GALC, ARSA, GUSB,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Epidermolysis bullosa, junctional (Sanger Panel)
- GENES: COL17A1, LAMA3, LAMB3, LAMC2
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Epilepsy childhood absence (NGS Panel)
- GENES: CACNA1H, GABRA1, GABRB3, GABRG2, JRK, SLC2A1
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Epilepsy generalized with febrile seizures (NGS Panel)
- GENES: GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Epilepsy partial familial (NGS Panel)
- GENES: CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Episodic Ataxias - Panel 3 (Sanger Panel)
- GENES: CACNA1A, KCNA1, CACNB4, SLC1A3
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Familial hemiplegic migraine (Sanger Panel)
- GENES: ATP1A2, CACNA1A, SCN1A
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Fanconi anemia (NGS Panel)
- GENES: BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Glycosylation disorders (Sanger Panel)
- GENES: PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Hermansky-Pudlak syndrome (NGS Panel)
- GENES: HPS1, P3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Hirschsprung disease (NGS Panel)
- GENES: ECE1, EDN3, EDNRB, GDNF, KIAA1279, NRG1, NRTN, RET,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Joubert/Meckel Gruber syndrome (NGS Panel)
- GENES: AHI1, ARL13B, INPP5E, OFD1, MKS1, NPHP1, TMEM216,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Joubert syndrome (NGS Panel)
- GENES: AHI1, ARL13B, C5orf42, CC2D2A, CEP41, CEP290, EXOC8,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Leber congenital amaurosis (NGS Panel)
- GENES: AIPL1, CABP4, CEP290, CR81, CRX, GUCY2D, IMPDH1,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Leber optic atrophy [LHON] (Sanger Panel)
- GENES: MTATP6, MTCO1, MTCO3, MTCYB, MTND1, MTND2, MTND4,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Leigh syndrome and mitochondrial encephalopathy (NGS Panel)
- GENES: ACAD9, ADCK3, AIFM1, APTX, ATPAF2, BCS1L, C10ORF2,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Leukodystrophy (NGS Panel)
- GENES: ABCD1, AIMP1, ARSA, ASPA, CYP27A1, DARS2, EIF2B1,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Limb-girdle muscular dystrophy (NGS Panel)
- GENES: ANO5, CAPN3, DYSF, FKRP, FKTN, POMT1, POMT2, SGCA,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Limb-girdle muscular dystrophy, AD [LGMD] (Sanger Panel)
- GENES: MYOT, LMNA, CAV3
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Lissencephaly (NGS Panel)
- GENES: ARX, DCX, PAFAH1B1, RELN, TUBA1A, YWHAE
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Long QT syndrome (NGS Panel)
- GENES: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Malignant hyperthermia [MHS] (Sanger Panel)
- GENES: CACNA1S, RYR1
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Maple syrup urine disease (NGS Panel)
- GENES: BCKDHA, BCKDHB, DBT, DLD
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Marfan Syndrome, TAAD and Related Disorders (NGS Panel)
- GENES: ACTA2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Megaloblastic anemia (NGS Panel)
- GENES: AMN, CUBN, GIF
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Mental retardation, X-linked (NGS Panel)
- GENES: ABCD1, ACSL4, AFF2, AGTR2, AP1S2, ARHGEF6, ARHGEF9,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
MERRF (Sanger Panel)
- GENES: mitochondrial: MT-TF, MT-TH, MT-TK, MT-TL1, MT-TS1,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Microcephaly Panel (NGS Panel)
- GENES: AKT3, AP4M1, ASPM, CASK, CDK5RAP2, CENPJ, CEP135,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Mitochondrial DNA depletion syndrome (Sanger Panel)
- GENES: SUCLA2, RRM2B, C10ORF2, TK2, TYMP, DGUOK, POLG, MPV17,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Mitochondrial myopathy - lactic acidosis [MELAS] (Sanger Panel)
- GENES: MT-TL1, MT-TQ, MT-TH, MT-TK, MT-TS1, MT-ND1, MT-ND5,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
MODY (NGS Panel)
- GENES: ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Mucopolysaccharidosis (NGS Panel)
- GENES: IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Myofibrillar myopathy (NGS Panel)
- GENES: BAG3, CRYAB, DES, FLNC, LDB3, MYOT
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
NEB (NGS Panel)
- GENE: NEB
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Nemaline myopathy (NGS Panel)
- GENES: NEB, ACTA1, CFL2, MTM1, TNNT1, TPM2, TPM3
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Nephronophthisis (NGS Panel)
- GENES: NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP164, CEP290, ...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Noonan - CFC syndrome (NGS Panel)
- GENES: BRAF, CBL, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Oculomotor apraxia (NGS Panel)
- GENES: APTX, PIK3R5, SETX
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Optic atrophy (OA) (NGS Panel)
- GENES: AUH, C12ORF65, CISD2, NDUFS1, OPA1, OPA3, POLG, SPG7,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Osteogenesis imperfecta (NGS Panel)
- GENES: COL1A1, COL1A2, IFITM5
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Pancreatitis (NGS Panel)
- GENES: PRSS1, SPINK1, CFTR, CTRC
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Parkinson panel I (Sanger Panel)
- GENES: SNCA, LRRK2, VPS35
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Parkinson panel III (recessice pedigree with atypical phenotype) (Sanger Panel)
- GENES: ATP13A2, PLA2G6, PARK15
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Parkinson panel II (recessive pedigree with typical phenotype) (Sanger Panel)
- GENES: parkin, PINK1, DJ-1
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Pheochromocytoma panel (NGS Panel)
- GENES: MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Polycystic kidney (NGS Panel)
- GENES: BICC1, PKD1, PKD2, NOTCH2, PKHD1
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Primary ciliary dyskinesia (NGS Panel)
- GENES: DNAI1, DNAAF3, DNAH5, HYDIN , NME8, DNAH11, DNAI2 ,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Progressive external ophthalmoplegia (PEO) (NGS Panel)
- GENES: C10ORF2, OPA1, POLG1, POLG2, RRM2B, SLC25A4, TYMP
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Retinal dystrophy screen - AD (Sanger Panel)
- GENES: RHO, RGR, PDE6B, GUCY2D, HPRP3, PRPF31, PRPF8, PRPH2
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Retinal dystrophy screen - AR (Sanger Panel)
- GENES: RPE65, LRAT, ABCA4, RHO, PDE6A, PDE6B, CNGA1, CNGB1,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Retinitis pigmentosa (AD) (NGS Panel)
- GENES: ABCA4, BEST1, CA4, FSCN2, GUCA1B, IMPDH1, KLHL7,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Retinitis pigmentosa (AR) (NGS Panel)
- GENES: ABCA4, ARL6, C2ORF71, CERKL, CNGA1, CNGB1, CRB1, EYS,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
RYR1 (full sequencing) (NGS Panel)
- GENE: RYR1
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
SCA panel (A) [SCA1, 2, 3, 4, 5, 6, 7, 8] (Sanger Panel)
- GENES: ATXN1, ATXN2, PLEKHG4, SPTBN2, CACNA1A, ATXN7,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing, Repeat Expansion Test
SCA panel (B) [SCA 10, 11, 12, 13, 14, 15, 17, 18, 23, 27, 28] (Sanger Panel)
- GENES: ATXN10, TTBK2, PPP2R2B, KCNC3, PRKCG, ITPR1, TBP, ...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing, Repeat Expansion Test
Spastic paraplegia (SPG) (AD) (NGS Panel)
- GENES: ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Spastic paraplegia (SPG) (AR) (NGS Panel)
- GENES: CYP7B1, FA2H, GJC2, PNPLA6, SPG7, SPG11, SPG20, SPG21,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Stickler syndrome (NGS Panel)
- GENES: COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
SYNE1 (NGS Panel)
- GENE: SYNE1
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
SYNE2 (NGS Panel)
- GENE: SYNE2
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Thrombocytopenia (NGS Panel)
- GENES: ADAMTS13, GATA1, GP1BA, GP1BB, GP9, MASTL, MYH9, MPL,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Tuberous sclerosis [TS] (Sanger Panel)
- GENES: TSC1, TSC2
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Ullrich congenital muscular dystrophy (NGS Panel)
- GENES: COL6A1, COL6A2, COL6A3
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Urea cycle disorder (NGS Panel)
- GENES: ARG1, ASS1, CPS1, NAGS, OTC
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Walker-Warburg syndrome [WWS] (Sanger Panel)
- GENES: FKRP, FKTN, ISPD, LARGE, POMT1, POMT2
- Methods: Deletion/Duplication Testing, Full Gene Sequencing
Zellweger syndrome (NGS Panel)
- GENES: PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13,...
- Methods: Deletion/Duplication Testing, Full Gene Sequencing

About Centogene

Our Partner

Got Some Feedback?