| INDICATION |
GENE |
| 22q11 microdeletion syndrome, VCFS |
[22Q11] |
| Acromegaly, pituitary adenoma predisposition |
AIP |
| Adrenal deficiency, DSD, POF |
NR5A1 |
| Adrenal hypoplasia, X-linked, AHC |
NR0B1 |
| Albright hereditary osteodystrophy, AHO |
GNAS |
| Amyloidosis I and VII; transthyretin amyloidosis |
TTR |
| Amyotrophic lateral sclerosis type 1, ALS1 |
SOD1 |
| Amyotrophic lateral sclerosis type 4, ALS4 |
SETX |
| Amyotrophic lateral sclerosis type 6, ALS6 |
FUS |
| Amyotrophic lateral sclerosis type 8, ALS8 |
VAPB |
| Amyotrophic lateral sclerosis type 9, ALS9 |
ANG |
| Amyotrophic lateral sclerosis type 10, ALS10 |
TARDBP |
| Amyotrophic lateral sclerosis type 11, ALS11 |
FIG4 |
| Angelman syndrome |
[AS] |
| Arrhythmogenic right ventricular dysplasia, ARVD/C 1 |
TGFB3 |
| Arrhythmogenic right ventricular dysplasia, ARVD/C 5 |
TMEM43 |
| Arrhythmogenic right ventricular dysplasia, ARVD/C 8 |
DSP |
| Arrhythmogenic right ventricular dysplasia, ARVD/C 9 |
PKP2 |
| Arrhythmogenic right ventricular dysplasia, ARVD/C 10 |
DSG2 |
| Arrhythmogenic right ventricular dysplasia, ARVD/C 11 |
DSC2 |
| Arrhythmogenic right ventricular dysplasia, ARVD/C 12 |
JUP |
| Arrhythmogenic right ventricular dysplasia |
PLN |
| Azoospermia; severe oligozoospermia, AZF |
[AZF] |
| Biotidinase deficiency |
BTD |
| Blau syndrome |
NOD2 |
| Branchio-oto-renal syndrome type 2 |
SIX5 |
| Branchio-oto-renal syndrome type 3 |
SIX1 |
| Breast cancer, hereditary, BRCA1 |
BRCA1 |
| Breast cancer, hereditary, BRCA2 |
BRCA2 |
| Cataract and dilating cardiomyopathy, CRYAB |
CRYAB |
| Cholestasis, familial intrahepatic 1, PFIC1 |
ATP8B1 |
| Cholestasis, familial intrahepatic 2, PFIC2 |
ABCB11 |
| Cholestasis, familial intrahepatic 2, PFIC3 |
ABCB4 |
| CINCA syndrome |
NLRP3 |
| Currarino triad, TRIAD |
HLXB9 |
| DIRA syndrome |
IL1RN |
| Fabry disease; alpha-galactosidase A deficiency, FABRY |
GLA |
| Fallot, Tetralogy of, TOF |
NKX2-5 |
| Familial cold auto inflammatory syndrome 1, FCAS1 |
NLRP3 |
| Familial cold auto inflammatory syndrome 1, FCAS2 |
NLRP12 |
| Familial mediterranean fever, FMF |
MEFV |
| Familial myeloid malignancy |
CEBPA |
| Familial platelet disorder, with associated myeloid malignancy |
RUNX1 |
| Fraser syndrome |
FRAS1 |
| Fraser syndrome |
FREM2 |
| Fraser syndrome / MOTA / BNAR |
FREM1 |
| Fraser syndrome |
GRIP1 |
| Hyperglycerolemia |
GK |
| Hemochromatosis |
HFE |
| Hemophilia A, HEMA |
F8 |
| Hyper-IgD syndrome, HIDS |
MVK |
| Hyperparathyreoidism, familial primary, HRPT1 |
MEN1 |
| Hypodontia, familial, HYD1 |
MSX1 |
| Hypodontia, familial, HYD3 |
PAX9 |
| Hypodontia, familial |
WNT10A |
| Inflammatory bowel disease, type 28 |
IL10RA |
| Inflammatory bowel disease, type 25 |
IL10RB |
| Joubert syndrome type 3, JBTS3 |
AHI1 |
| Joubert syndrome type 4, JBTS4 |
NPHP1 |
| Kennedy disease; SBMA, X-linked type 1, SBMA, SMAX1 |
AR |
| Lesch-Nyhan syndrome, LNS |
HPRT1 |
| Lynch syndrome, HNPCC2 |
MLH1 |
| Lynch syndrome, HNPCC1 |
MSH2 |
| Lynch syndrome, HNPCC5 |
MSH6 |
| Medium-chain acyl-coA dehydrogenase deficiency, MCAD |
ACADM |
| Metachromatic leukodystrophy, MLD |
ARSA |
| Mevalonate kinase deficiency, MKD |
MVK |
| Microsatellite instability test |
[MSI] |
| Microvillus inclusion disease with diarrhea, MVID, DIAR2 |
MYO5B |
| Muckle-Wells syndrome |
NLRP3 |
| Multiple endocrine neoplasia type 1A, MEN1 |
MEN1 |
| Multiple endocrine neoplasia type 2A, MEN2A |
RET |
| Multiple endocrine neoplasia type 4, MEN4 |
CDKN1A |
| Multiple endocrine neoplasia type 4, MEN4 |
CDKN1B |
| Multiple endocrine neoplasia type 4, MEN4 |
CDKN2B |
| Multiple endocrine neoplasia type 4, MEN4 |
CDKN2C |
| Myotonic dystrophy type 1, DM1 |
DMPK |
| Myotonic dystrophy type 2, DM2 |
ZNF9 |
| Nephronophthisis type 1 |
NPHP1 |
| Nephronophthisis type 3 |
NPHP3 |
| Obesity |
LEP |
| Obesity |
LEPR |
| Obesity |
PCSK1 |
| Obesity |
POMC |
| Oligodontia/hypodontia |
AXIN2 |
| Oligodontia/hypodontia |
IRF6 |
| Oligodontia/hypodontia |
SUMO1 |
| Oligodontia/hypodontia |
TBX22 |
| Oligodontia-colorectal cancer syndrome |
AXIN2 |
| PAPA syndrome |
PSTPIP1 |
| Papillary renal cell carcinoma, PRC |
MET |
| Phenylketonuria type 1. Phenylalanine hydroxylase deficiency, PKU |
PAH |
| Phenylketonuria type 3. 6-pyruvoyl tetrahydro pterin synthase deficiency, PTPS |
PTS |
| Pheochromocytoma/paraganglioma, hereditary |
SDHB |
| Pheochromocytoma/paraganglioma, hereditary |
SDHC |
| Pheochromocytoma/paraganglioma, hereditary |
SDHD |
| Pheochromocytoma/paraganglioma, hereditary |
TMEM127 |
| Polyneuropathy, amyloid |
TTR |
| Pompe disease, GSD2 |
GAA |
| Phosphoglycerate dehydrogenase deficiency |
PHGDH |
| Prader-Willi syndrome, PWS |
[PWS] |
| Premature ovarian failure, POF |
FMR1 |
| Pseudohypoparathyroidism type 1a, PHP1a |
GNAS |
| Pyruvate kinase deficiency, PK |
PKLR |
| Renal coloboma syndrome |
PAX2 |
| Renal adysplasia |
UPK3A |
| Rendu, Osler and Weber syndrome, HHT1 |
ENG |
| Rendu, Osler and Weber syndrome, HHT2 |
ACVRL1 |
| Rendu, Osler and Weber syndrome, JPHT |
SMAD4 |
| Rett syndrome, RTT |
MECP2 |
| Rett syndrome, atypical |
CDKL5 |
| Rett syndrome, atypical |
MEF2C |
| Schizencephaly |
EMX2 |
| Spinocerebellar ataxia, autosomal dominant, SCA1 |
ATXN1 |
| Spinocerebellar ataxia, autosomal dominant, SCA2 |
ATXN2 |
| Spinocerebellar ataxia, autosomal dominant, SCA3 |
ATXN3 |
| Spinocerebellar ataxia, autosomal dominant, SCA6 |
CACNA1A |
| Spinocerebellar ataxia, autosomal dominant, SCA7 |
ATXN7 |
| Spinocerebellar ataxia, autosomal dominant, SCA12 |
PP2R2B |
| Spinocerebellar ataxia, autosomal dominant, SCA13 |
KCNC3 |
| Spinocerebellar ataxia, autosomal dominant, SCA14 |
PRKCG |
| Spinocerebellar ataxia, autosomal dominant, SCA17 |
TBP |
| Spinocerebellar ataxia, autosomal dominant, SCA23 |
PDYN |
| Spinocerebellar ataxia, autosomal dominant, SCA28 |
AFG3L2 |
| Sporadic medullary thyroid carcinoma, MTC |
MTC |
| Tumor necrosis factor receptor-associated periodic fever syndrome, TRAPS |
TNFRSF1A |
| Tyrosinemia type 1, HT1 |
FAH |
| Uniparental disomy, chromosome... |
[MARK] |
| Vesicoureteral reflux1; VUR1 |
PAX2 |
| Von Hippel-Lindau disease |
VHL |
| Van der Woude syndrome, VWS |
IRF6 |
| Wilson Disease, WD |
ATP7B |
| X-chromosome inactivation |
AR |
| Zygosity test |
[X2Y] |