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Endocrinology
Timely detection and diagnosis of hormone-related diseases can significantly improve prognosis. With our extensive data repository of rare diseases, we can provide you with a comprehensive medical report, including recommendations and a differential diagnosis, if applicable – allowing for genetic counseling and treatment decisions.
Diabetes and obesity panel
Our diabetes and obesity panel is recommended for patients with abnormalities in glucose metabolism, such as hyperinsulinemic hypoglicemia, diabetes neonatal, MODY, diabetes in adults, and familial hypercholesterolemia as well as for patients displaying insulin resistance, from mild to the severe spectrum (Donohue syndrome), and for patients with familial hyperinsulinism. Disorders caused by imprinting errors or uniparental disomy such as 6q24-related transient neonatal diabetes mellitus and Beckwith Wiedemann syndrome are not detected wtih this panel.
| No. of genes: | 196 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV analysis included |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCA1 | 600046 | Tangier disease; HDL deficiency, type 2 | AR |
| ABCC8 | 600509 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; leucine-sensitive hypoglycemia of infancy; familial hyperinsulinemic hypoglycemia type 1; transient neonatal diabetes mellitus type 2 | AD, AR |
| ACAT1 | 607809 | alpha-methylacetoacetic aciduria | AR |
| ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | |
| AFF4 | 604417 | CHOPS syndrome | AD |
| AGL | 610860 | glycogen storage disease type III | AR |
| AKT2 | 164731 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hypoinsulinemic hypoglycemia with hemihypertrophy | AD |
| ALDOA | 103850 | Glycogen storage disease XII | AR |
| ALDOB | 612724 | hereditary fructose intolerance | AR |
| ALG1 | 605907 | congenital disorder of glycosylation type 1k | AR |
| ALG11 | 613666 | congenital disorder of glycosylation type 1p | AR |
| ALG12 | 607144 | congenital disorder of glycosylation type 1g | AR |
| ALG13 | 300776 | congenital disorder of glycosylation type 1s | XLD |
| ALG2 | 607905 | congenital disorder of glycosylation type 1i | AR |
| ALG3 | 608750 | congenital disorder of glycosylation type 1d | AR |
| ALG6 | 604566 | congenital disorder of glycosylation type 1c | AR |
| ALG8 | 608103 | congenital disorder of glycosylation type 1h | AD, AR |
| ALG9 | 606941 | Gillessen-Kaesbach-Nishimura syndrome; congenital disorder of glycosylation type 1l | AR |
| APOA1 | 107680 | Amyloidosis, familial visceral | AD |
| APOA5 | 606368 | HYPERLIPOPROTEINEMIA, TYPE V; Hypertriglyceridemia, susceptibility to | AD |
| APOB | 107730 | Hypercholesterolemia, Type B; Hypobetalipoproteinemia | AD, AR |
| APOC2 | 608083 | Apolipoprotein C-Ii Deficiency | AR |
| APOE | 107741 | Alzheimer Disease 2; Sea-blue histiocyte disease; Macular Degeneration, Age-Related, 1; early-onset familial Alzheimer disease-3; Lipoprotein glomerulopathy | AD, AR |
| ARL13B | 608922 | Joubert syndrome 8 | AR |
| ARL6 | 608845 | Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | AR, DiR |
| ATP6V0A2 | 611716 | autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome | AR |
| B4GALT1 | 137060 | congenital disorder of glycosylation type 2d | AR |
| BBS1 | 209901 | Bardet-Biedl syndrome type 1 | AR, DiR |
| BBS10 | 610148 | Bardet-Biedl syndrome type 10 | AR |
| BBS12 | 610683 | Bardet-Biedl syndrome type 12 | AR |
| BBS2 | 606151 | Bardet-Biedl syndrome type 2; retinitis pigmentosa type 74 | AR |
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
| BBS7 | 607590 | Bardet-Biedl syndrome type 7 | AR |
| BBS9 | 607968 | Bardet-Biedl syndrome type 9 | AR |
| BDNF | 113505 | ||
| BLK | 191305 | MODY type 11 | AD |
| C8orf37 | 614477 | Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21 | AR |
| CC2D2A | 612013 | COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 | AR |
| CCDC28B | 610162 | Bardet-Biedl syndrome type 1 | AR, DiR |
| CEL | 114840 | MODY type 8 | AD |
| CEP164 | 614848 | nephronophthisis 15 | AR |
| CEP290 | 610142 | Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 | AR |
| CHD2 | 602119 | childhood-onset epileptic encephalopathy | AD |
| CISD2 | 611507 | Wolfram syndrome 2 | AR |
| COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
| COG4 | 606976 | congenital disorder of glycosylation type 2j; Saul-Wilson syndrome | AD, AR |
| COG5 | 606821 | Congenital disorder of glycosylation, type IIi | AR |
| COG6 | 606977 | congenital disorder of glycosylation type 2l; Shaheen syndrome | AR |
| COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
| COG8 | 606979 | congenital disorder of glycosylation type 2h | |
| CP | 117700 | aceruloplasminemia | AR |
| CREBBP | 600140 | Rubinstein-Taybi syndrome 1 | AD |
| CUL4B | 300304 | MENTAL RETARDATION, X-LINKED 15 | XLR |
| CYP27A1 | 606530 | cerebrotendinous xanthomatosis | AR |
| DDOST | 602202 | Congenital disorder of glycosylation, type Ir | AR |
| DHDDS | 608172 | retinitis pigmentosa type 59; Developmental delay and seizures with or without movement abnormalities | AD, AR |
| DOLK | 610746 | congenital disorder of glycosylation type 1m | AR |
| DPM1 | 603503 | Congenital disorder of glycosylation, type Ie | AR |
| DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
| DPM3 | 605951 | congenital disorder of glycosylation, type Io | AR |
| DYRK1B | 604556 | Abdominal obesity-metabolic syndrome 3 | AD |
| EIF2AK3 | 604032 | Wolcott-Rallison syndrome | AR |
| ENO3 | 131370 | Glycogen storage disease XIII | AR |
| ENPP1 | 173335 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease | AD, AR |
| EPM2A | 607566 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
| FBP1 | 611570 | Fructose-1,6-bidphosphatase deficiency | AR |
| FOXP3 | 300292 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | XLR |
| G6PC | 613742 | glycogen storage disease type IA | AR |
| GAA | 606800 | Pompe disease | AR |
| GATA6 | 601656 | Tetralogy of Fallot; Conotruncal Heart Malformations; Pancreatic agenesis and congenital heart defects; Atrioventricular septal defect 5; Atrial septal defect 9 | AD |
| GBE1 | 607839 | storage disease type 4; Polyglucosan body disease, adult form | AR |
| GCK | 138079 | MODY type 2; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hyperinsulinemic hypoglycemia, familial, 3; permanent neonatal diabetes mellitus | AD, AR |
| GHR | 600946 | familial hypercholesterolemia; Laron syndrome; Increased responsiveness to growth hormone | AD, AR |
| GLI3 | 165240 | Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Preaxial polydactyly type IV; Greig cephalopolysyndactyly syndrome | AD |
| GLIS3 | 610192 | Diabetes mellitus, neonatal, with congenital hypothyroidism | AR |
| GLUD1 | 138130 | familial hyperinsulinemic hypoglycemia-6 | AD |
| GMPPA | 615495 | Alacrima, achalasia, and mental retardation syndrome | AR |
| GNAS | 139320 | Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism | AD |
| GNE | 603824 | Sialuria; Nonaka myopathy | AD, AR |
| GPIHBP1 | 612757 | Hyperlipoproteinemia, type 1D | AR |
| GYG1 | 603942 | Glycogen storage disease XV; Polyglucosan body myopathy 2 | AR |
| GYS1 | 138570 | Glycogen storage disease 0, muscle | AR |
| GYS2 | 138571 | Glycogen storage disease 0, liver | AR |
| HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency; familial hyperinsulinemic hypoglycemia type 4 | AR |
| HEXA | 606869 | Tay-Sachs disease/ GM2-gangliosidosis | AR |
| HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
| HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
| HNF1A | 142410 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Renal carcinoma, chromophobe, somatic; Diabetes mellitus, insulin-dependent-1; MODY type 3 | AD, AR |
| HNF1B | 189907 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 5; Renal carcinoma, chromophobe, somatic | AD |
| HNF4A | 600281 | MODY type 1; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
| IER3IP1 | 609382 | Microcephaly, epilepsy, and diabetes syndrome | AR |
| IFT172 | 607386 | Short-rib thoracic dysplasia 10 with or without polydactyly | AR |
| IFT27 | 615870 | Bardet-Biedl syndrome 19 | AR |
| INPP5E | 613037 | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
| INS | 176730 | Diabetes Mellitus, Insulin-Dependent, 2; MODY type 10 | AD, AR |
| INSR | 147670 | Donohue syndrome; Rabson-Mendenhall syndrome; Hyperinsulinemic hypoglycemia, familial, 5; Diabetes mellitus, insulin-resistant, with acanthosis nigricans | AD, AR |
| KCNJ11 | 600937 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; familial hyperinsulinemic hypoglycemia type 2; transient neonatal diabetes mellitus type 3; MODY type 13 | AD, AR |
| KIF7 | 611254 | Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 | AR |
| KLF11 | 603301 | MODY type 7 | |
| LAMP2 | 309060 | Danon disease | XLD |
| LARGE1 | 603590 | congenital muscular dystrophy-dystroglycanopathy with mental retardation type B6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 | AR |
| LDHA | 150000 | Glycogen storage disease XI | AR |
| LDLR | 606945 | familial hypercholesterolemia | AD |
| LDLRAP1 | 605747 | Hypercholesterolemia, Autosomal Recessive | AR |
| LEP | 164160 | Leptin deficiency | AR |
| LEPR | 601007 | Morbid obesity due to leptin receptor deficiency | AR |
| LIPA | 613497 | Wolman disease / cholesteryl ester storage disease | AR |
| LIPE | 151750 | Lipodystrophy, familial partial, type 6 | AR |
| LPL | 609708 | familial combined hyperlipidemia; lipoprotein lipase deficiency | AD, AR |
| LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
| MAGEL2 | 605283 | Schaaf-Yang syndrome | AD |
| MAN1B1 | 604346 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | AR |
| MC4R | 155541 | AD, AR | |
| MGAT2 | 602616 | Congenital disorder of glycosylation, type IIa | AR |
| MKKS | 604896 | McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 | AR |
| MKS1 | 609883 | Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 | AR |
| MOGS | 601336 | congenital disorder of glycosylation type 2b | AR |
| MPDU1 | 604041 | congenital disorder of glycosylation type 1f | AR |
| MPI | 154550 | congenital disorder of glycosylation type 1b | AR |
| MPV17 | 137960 | mitochondrial DNA depletion syndrome type 6 | AR |
| MTTP | 157147 | Abetalipoproteinemia; protection against metabolic syndrome | AD, AR |
| MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
| MYO7A | 276903 | Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 | AD, AR |
| NDN | 602117 | Prader-Willi syndrome | AD |
| NEUROD1 | 601724 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 6 | AD |
| NEUROG3 | 604882 | Diarrhea 4, malabsorptive, congenital | AR |
| NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
| NHLRC1 | 608072 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
| NPHP1 | 607100 | nephronophthisis 1; Joubert syndrome 4 | AR |
| NPHP3 | 608002 | Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 | AR |
| NR0B2 | 604630 | OBESITY | AD, AR |
| NTRK2 | 600456 | Obesity, hyperphagia, and developmental delay; early infantile epileptic encephalopathy type 58 | AD |
| OFD1 | 300170 | Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 | XLD, XLR |
| OXCT1 | 601424 | Succinyl CoA:3-oxoacid CoA transferase deficiency | AR |
| PAX4 | 167413 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Maturity-onset diabetes of the young, type IX | AD, AR |
| PC | 608786 | pyruvate carboxylase deficiency | AR |
| PCK1 | 614168 | Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency | AR |
| PCNT | 605925 | microcephalic osteodysplastic primordial dwarfism type 2 | AR |
| PCSK1 | 162150 | Obesity with impaired prohormone processing | AR |
| PCSK9 | 607786 | hypercholesterolemia-3 | AD |
| PDX1 | 600733 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Pancreatic Agenesis, Congenital; MODY type 4 | AD, AR |
| PFKM | 610681 | Glycogen storage disease type VII | AR |
| PGAM2 | 612931 | Glycogen storage disease X | AR |
| PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
| PGM1 | 171900 | congenital disorder of glycosylation type 1t | AR |
| PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
| PHKA1 | 311870 | Muscle glycogenosis | XLR |
| PHKA2 | 300798 | glycogen storage disease type IX | XLR |
| PHKB | 172490 | Glycogen storage disease IXb; Phosphorylase kinase deficiency of liver and muscle | AR |
| PHKG2 | 172471 | Glycogen storage disease IXc | AR |
| PMM2 | 601785 | congenital disorder of glycosylation type 1a | AR |
| PNPLA6 | 603197 | Boucher-Neuhauser syndrome; spastic paraplegia 39 | AR |
| POMC | 176830 | OBESITY; Proopiomelanocortin Deficiency | AD, AR |
| PPARG | 601487 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3 | AD, AR |
| PRKAG2 | 602743 | Wolff-Parkinson-White syndrome; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; familial hypertrophic cardiomyopathy 6 | AD |
| PROM1 | 604365 | Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12 | AD, AR |
| PRPH2 | 179605 | Retinitis punctata albescens; Patterned dystrophy of retinal pigment epithelium (macular dystrophy); Retinitis pigmentosa 7; vitelliform macular dystrophy-3; Choriodal dystrophy, central areolar 2 | AD, AR |
| PTF1A | 607194 | Pancreatic Agenesis 2 | AR |
| PYGL | 613741 | glycogen storage disease type 6 | AR |
| PYGM | 608455 | glycogen storage disease type 5 | AR |
| RAB23 | 606144 | Carpenter syndrome | AR |
| RAI1 | 607642 | Smith-Magenis syndrome | AD |
| RBCK1 | 610924 | Polyglucosan body myopathy 1 with or without immunodeficiency | AR |
| RDH5 | 601617 | Retinitis punctata albescens | AD, AR |
| RFT1 | 611908 | congenital disorder of glycosylation type 1n | AR |
| RFX6 | 612659 | Mitchell-Riley syndrome | AR |
| RHO | 180380 | Retinitis punctata albescens; Night blindness, congenital stationary, autosomal dominant 1; Retinitis Pigmentosa 4 | AD, AR |
| RLBP1 | 180090 | Retinitis punctata albescens | AD, AR |
| RPGRIP1L | 610937 | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 | AR |
| RPS6KA3 | 300075 | MENTAL RETARDATION, X-LINKED 19; Coffin-Lowry syndrome | XLD |
| SDCCAG8 | 613524 | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | AR |
| SIM1 | 603128 | ||
| SLC16A1 | 600682 | Monocarboxylate transporter 1 deficiency | AD, AR |
| SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
| SLC2A2 | 138160 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi-Bickel syndrome | AD, AR |
| SLC35A1 | 605634 | Congenital disorder of glycosylation, type IIf | AR |
| SLC35A2 | 314375 | congenital disorder of glycosylation type 2m | XLD |
| SLC35C1 | 605881 | Congenital disorder of glycosylation, type IIc | AR |
| SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
| SRD5A3 | 611715 | congenital disorder of glycosylation type 1q; Kahrizi syndrome | AR |
| SSR4 | 300090 | congenital disorder of glycosylation type 1y | XLR |
| STT3A | 601134 | congenital disorder of glycosylation type 1w | AR |
| STT3B | 608605 | Congenital disorder of glycosylation, type Ix | AR |
| TMEM165 | 614726 | Congenital disorder of glycosylation, type IIk | AR |
| TMEM67 | 609884 | COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 | AR |
| TRIM32 | 602290 | limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 | AR |
| TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 | AD, AR |
| TTC8 | 608132 | retinitis pigmentosa type 51; Bardet-Biedl syndrome type 8 | AR |
| TUSC3 | 601385 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 | AR |
| UCP2 | 601693 | ||
| UCP3 | 602044 | OBESITY | AD, AR |
| VPS13B | 607817 | Cohen syndrome | AR |
| WDPCP | 613580 | Bardet-Biedl syndrome 15 | AR |
| WFS1 | 606201 | congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome | AD, AR |
| ZFP57 | 612192 | Diabetes mellitus, transient neonatal, 1 | AD |
COMMON SYNDROMES AND DISORDERS COVERED
Bardet-Biedl syndrome
Congenital glycosylation disease
Congenital hyperinsulinism
Familial hypercholesterolemia
Hypoglycemia
Maturity onset diabetes of the young
Neonatal diabetes
Obesity
Pancreatitis panel
Our pancreatitis panel includes genes associated with chronic pancreatitis and for differential diagnosis, it includes genes associated with pancreatic cancer.
| No. of genes: | 29 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV analysis included |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCB4 | 171060 | gallbladder disease type 1; progressive familial intrahepatic cholestasis type 3; Cholestasis, intrahepatic, of pregnancy, 3 | AD, AR |
| APC | 611731 | colorectal cancer; Hepatocellular Carcinoma; Desmoid disease, hereditary; familial adenomatous polyposis; Gastric Cancer | AD |
| APOA5 | 606368 | HYPERLIPOPROTEINEMIA, TYPE V; Hypertriglyceridemia, susceptibility to | AD |
| APOC2 | 608083 | Apolipoprotein C-Ii Deficiency | AR |
| ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
| BMPR1A | 601299 | Juvenile polyposis syndrome, infantile form | AD |
| BRCA1 | 113705 | familial breast-ovarian cancer type 1; pancreatic cancer type 4; Fanconi anemia, complementation group S | AD, AR |
| BRCA2 | 600185 | familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 | AD, AR |
| CASR | 601199 | Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 | AD, AR |
| CDKN2A | 600160 | Malignant melanoma 2; Pancreatic cancer/melanoma syndrome | AD |
| CFTR | 602421 | hereditary pancreatitis; Bronchiectasis with or without elevated sweat chloride type 1; cystic fibrosis; congenital bilateral absence of vas deferens | AD, AR |
| CPA1 | 114850 | ||
| CTRC | 601405 | hereditary pancreatitis | AD |
| EPCAM | 185535 | Diarrhea 5, with tufting enteropathy, congenital; Colorectal cancer, hereditary nonpolyposis, type 8 | AR |
| GPIHBP1 | 612757 | Hyperlipoproteinemia, type 1D | AR |
| LPL | 609708 | familial combined hyperlipidemia; lipoprotein lipase deficiency | AD, AR |
| MEN1 | 613733 | multiple endocrine neoplasia type 1 | AD |
| MLH1 | 120436 | Muir-Torre syndrome; mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-2 | AD, AR |
| MSH2 | 609309 | Lynch syndrome; Muir-Torre syndrome; mismatch repair cancer syndrome | AD, AR |
| MSH6 | 600678 | mismatch repair cancer syndrome; endometrial cancer; hereditary nonpolyposis colorectal cancer-5 | AD, AR |
| PALB2 | 610355 | familial breast-ovarian cancer type 2; Fanconi anemia of complementation group N; Pancreatic cancer, susceptibility to, 3 | AD |
| PMS2 | 600259 | mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-4 | AR |
| PRSS1 | 276000 | hereditary pancreatitis | AD |
| SMAD4 | 600993 | Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer | AD |
| SPINK1 | 167790 | hereditary pancreatitis | AD, AR |
| STK11 | 602216 | Peutz-Jeghers syndrome; Pancreatic Cancer; Spermatocytic seminoma, somatic | AD |
| TP53 | 191170 | familial breast-ovarian cancer type 2; colorectal cancer; Hepatocellular Carcinoma; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Osteogenic Sarcoma; Pancreatic Cancer | AD |
| UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
| VHL | 608537 | Renal carcinoma, chromophobe, somatic; pheochromocytoma; von Hippel-Lindau disease; Erythrocytosis, familial, 2 | AD, AR |
COMMON SYNDROMES AND DISORDERS COVERED
Pancreatic cancer
Pancreatitis
Congenital adrenal hyperplasia panel
Our congenital adrenal hyperplasia (CAH) panel is designed for patients suspected of having CAH. CAH is a group of inherited disorders characterized by improper functioning of the adrenal glands, leading to abnormal production of steroid hormones, such as a cortisol or aldosterone. Our panel includes the analysis of the CYP21A2 gene, which codes for the enzyme 21-hydroxylase. More than 90% of CAH cases are caused by a deficiency of this enzyme.
| No. of genes: | 8 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV analysis included CYPA21A2 analysis |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| CYP11A1 | 118485 | Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete | |
| CYP11B1 | 610613 | Glucocorticoid-Remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency | AD, AR |
| CYP17A1 | 609300 | congenital adrenal hyperplasia due to 17-Alpha-Hydroxylase deficiency | AR |
| CYP21A2 | 613815 | congenital adrenal hyperplasia type 1 | AR |
| HSD3B2 | 613890 | 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
| POR | 124015 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency | AR |
| PRKAR1A | 188830 | Acrodysostosis 1 With Or Without Hormone Resistance; Carney complex, type 1; Myxoma, intracardiac; Pigmented nodular adrenocortical disease, primary, 1 | AD |
| STAR | 600617 | Lipoid adrenal hyperplasia | AR |