Gold Plan

Gold Gene Panel: Comprehensive Screening for 500 Common & Rare Genetic Conditions You Could Pass to Your Baby

For couples considering having a baby, there is nothing more important than doing everything you can to help ensure he or she will be healthy. This includes the baby’s genetic health, and with the Medgenome Carrier Test you can put your worried mind at ease. Our Gold Plan screens for 500 mutated or defective genes which could result in the development of genetic disorder, such as a wide range of autoimmune and genitourinary disorders.

Find out more about our Gold Plan by talking with a genetic counselor today!

Gene
Phenotype in OMIM
ADAPartial adenosine deaminase deficiency, Severe combined immunodeficiency due to ADA deficiencys
AK2Reticular dysgenesis
C3Primary C3 deficiency
CD19Common variable immunodeficiency
CD3DImmunodeficiency 19
CD3EImmunodeficiency-18
CD40LGX-linked immunodeficiency with hyper-IgM type 1
CFHComplement factor H deficiency
CHRNA1Fast-channel congenital myasthenic syndrome-1B
CHRNDCongenital myasthenic syndrome-3C
CHRNDFast-channel congenital myasthenic syndrome-3B
CHRNEfast-channel congenital myasthenic syndrome-4B
CHRNECongenital myasthenic syndrome-4C associated with acetylcholine receptor (AChR) deficiency
CIITABare lymphocyte syndrome, type II, complementation group A
DCLRE1CSevere combined immunodeficiency, Athabascan type
DOK7Congenital myasthenic syndrome-10
FOXN1T-cell immunodeficiency, congenital alopecia and nail dystrophy
ICOSCommon variable immunodeficiency
IL2Severe combined immunodeficiency due to IL2 deficiency
IL21Rautosomal recessive IL21R-related primary immunodeficiency, elevated level of IgE
IL7RT-cell negative, B-cell/natural killer cell-positive type severe combined immunodeficiency
JAK3T cell-negative (T-), B cell-positive (B+), natural killer cell-negative (NK-) severe combined immunodeficiency
LYSTChediak-Higashi syndrome
MEFVFamilial Mediterranean fever
NHEJ1Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
PTPRCT cell-negative, B cell-positive, natural killer cell-positive severe combined immunodeficiency, susceptibility to Hepatitic C virus
RAG1Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity,
combined cellular and humoral immune defects with granulomas, Omenn syndrome, B cell-negative severe combined immunodeficiency
RAG2Combined cellular and humoral immune defects with granulomas, Omenn syndrome, B cell-negative severe combined immunodeficiency
RFX5Bare lymphocyte syndrome, type II, complementation group E/ C
RFXANKMHC class II deficiency, complementation group B
RFXAPBare lymphocyte syndrome, type II, complementation group D
TAP1Bare lymphocyte syndrome type I

Gene
Phenotype in OMIM
ADAMTS2Ehlers-Danlos syndrome type VIIC
COL11A1Fibrochondrogenesis
PLOD1Ehlers-Danlos type VI

Gene
Phenotype in OMIM
ABCA12Congenital ichthyosis
AP3B1Hermansky-Pudlak syndrome-2
ATP6V0A2Cutis laxa type IIA
BSCL2Congenital generalized lipodystrophy type 2
COL17A1Epidermolysis bullosa
COL7A1Epidermolysis bullosa
DCLRE1COmenn syndrome
DKC1X-linked dyskeratosiscongenita
EDAX-linked hypohidrotic ectodermal dysplasia-1
EDARHypohidrotic ectodermal dysplasia-10B
EDARADDHypohidrotic ectodermal dysplasia-11B
EDN3Waardenburg syndrome type 4B
EDNRBABCD syndrome
EDNRBWaardenburg syndrome type 4A
EFEMP2Cutis laxa type IB
ERCC6de Sanctis-Cacchione syndrome
GPR143Ocular albinism, type I, Nettleship-Falls type
GTF2H5photosensitive trichothiodystrophy-3
HPS1HermanskyPudlak syndrome type 1
ITGB4Epidermolysis bullosa of hands and feet, non-Herlitz type of junctional epidermolysis bullosa, junctional epidermolysis bullosa with pyloric atresia
LAMA3Herlitz type of junctional epidermolysis bullosa
LAMB3non Herlitz/ Herlitz type of junctional epidermolysis bullosa
LAMC2non Herlitz/ Herlitz type of junctional epidermolysis bullosa
LIPHHypotrichosis 7
NHP2Dyskeratosis congenita-2
NOP10Dyskeratosis congenita-1
OCA2Oculocutaneous albinism type II, Brown oculocutaneous albinism
PLECEpidermolysis bullosa simplex with muscular dystrophy, Limb-girdle muscular dystrophy type 2Q
RMRPCartilage-hair hypoplasia
RTEL1Dyskeratosis congenita-5
SLC39A4Acrodermatitisenteropathica
SLC45A2Oculocutaneous albinism type IV
SNAI2Waardenburg syndrome type IID
TERTDyskeratosis congenita-2 / -4
TGM1Congenital ichthyosis-1
TYROculocutaneous albinism type IA
TYRP1Oculocutaneous albinism-3
WRNWerner syndrome
XPAXeroderma pigmentosum complementation group A
XPCXeroderma pigmentosum complementation group C
ZMPSTE24Mandibuloacral dysplasia with type B lipodystrophy, Lethal restrictive dermopathy

Gene
Phenotype in OMIM
AAASAchalasia-addisonianism-alacrimia syndrome
ABCC8Familial hyperinsulinemic hypoglycemia-1
AIREAutoimmune polyendocrinopathy syndrome type I
ARAndrogen insensitivity
CYP11B1Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency
CYP17A1Congenital adrenal hyperplasia due to 17,20-alpha-hydroxylase deficiency/ 17-alpha-hydroxylase deficiency
CYP21A2Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
CYP21A2Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
DUOX2Thryoiddyshormonogenesis 6
EIF2AK3Wolcott-Rallison syndrome
GH1Growth hormone deficiency isolated 1A
GHRHRGrowth hormone deficiency isolated 1B
HADH3-hydroxyacyl-CoA dehydrogenase deficiency, familial hyperinsulinemic hypoglycemia-4
HSD3B2Congenital adrenal hyperplasia
IGF1Insulin-like growth factor I deficiency
INSRLeprechaunism, Rabson-Mendenhall syndrome
KCNJ11Hyperinsulinsim type 2
LHX3Combined pituitary hormone deficiency-3
LRP5Osteoporosis-pseudoglioma syndrome
NR0B1X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism
PAX8Congenital nongoitrous hypothyroidism-2
PROP1Combined pituitary hormone deficiency-2
SLC5A5Thyroid dyshormonogenesis 1
SRD5A2Pseudovaginalperineoscrotal hypospadias
STARLipoid adrenal hyperplasia
TGThyroid dyshormonogenesis 3
THRANongoitrous congenital hypothyroidism-6
TPOThyroid dyshormonogenesis 2A
TSHBCongenital nongoitrous hypothyroidism-4
TSHRFamilial gestational hyperthyroidism, nonautoimmune hyperthyroidism, congenital nongoitrous hypothyroidism 1, somatic hyperfunctioning thyroid adenoma, thyroid carcinoma with thyrotoxicosis

Gene
Phenotype in OMIM
FREM2Fraser syndrome

Gene
Phenotype in OMIM
CFTRCystic fibrosis, Sweat chloride elevation without CF, Congenital bilateral aplasia of the vas deferens
DOK7Fetal akinesia deformation sequence
ERBB3Lethal congenital contracture syndrome-2
HADHAacute fatty liver of pregnancy, maternal HELLP syndrome of pregnancy, LCHAD deficiency, trifunctional protein deficiency
HYLS1Hydrolethalus syndrome
L1CAMX-linked hydrocephalus
NLRP7Recurrent hydatidiform mole-1
RAPSNFetal akinesia deformation sequence | Myasthenic syndrome 11
TTC37Trichohepatoenteric syndrome 1

Gene
Phenotype in OMIM
FREM2Fraser syndrome

Gene
Phenotype in OMIM
ATRXalpha-thalassemia/mental retardation syndrome
F11Factor XI deficiency
F8Hemophilia A
F9Hemophilia B
FANCAFanconi anemia of complementation group A
FANCCFanconi anemia of complementation group C
FANCGFanconi anemia of complementation group G
G6PDHemolyticanemia due to G6PD deficiency
GP1BBBernard Soulier syndrome type B
GP9Bernard Soulier syndrome type C
GSSGlutathione synthetase deficiency, Hemolyticanemia due to glutathione synthetase deficiency
HBA1alpha-erythremias, alpha-Heinz body anemias, nondeletionalhemoglobin H disease, alpha-methemoglobinemias, alpha-thalassemias
HBA2Erythrocytosis, Heinz body anemia, nondeletionalhemoglobin H disease, hypochromic microcytic anemia, alpha-thalassemia
HBBSickle cell anemia
SBDSShwachman-Diamond syndrome/ Shwachman-Bodian-Diamond syndrome
vWFvon Willebrand disease
WASWiskott Aldrich syndrome, X-linked thrombocytopenia
HFEHemochromatosis type 1
HMOX1heme oxygenase-1 deficiency
HPRT1Lesch-Nyhan syndrome

Gene
Phenotype in OMIM
ABCB11Progressive familial intrahepatic cholestasis-2
ABCB4Progressive familial intrahepatic cholestasis-3
ABCD4Methylmalonic aciduria and homocystinuria, cblJ type
ACAD8Isobutyryl-CoA dehydrogenase deficiency
ACADLLong-chain acyl-CoA dehydrogenase deficiency
ACADMMedium-chain acyl-CoA dehydrogenase deficiency
ACADSShort-chain acyl-CoA dehydrogenase deficiency
ACADSBShort/branched-chain acyl-CoA dehydrogenase deficiency
ACADVLVery long-chain acyl-CoA dehydrogenase deficiency
ACAT1Alpha-methylacetoacetic aciduria
ACOX1Peroxisomal acyl-CoA oxidase deficiency
ACSF3Combined malonic and methylmalonic aciduria
ADAPartial adenosine deaminase deficiency, Severe combined immunodeficiency due to ADA deficiency
ADCK3Primary coenzyme Q10 deficiency-4
AGLGlycogen storage disease III
AGXTPrimary hyperoxaluria type I
AHCYHypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
ALDH3A2Sjogren-Larsson syndrome
ALDOBHereditary fructose intolerance
ALG6Congenital disorder of glycosylation type Ic
ALPLInfantile hypophosphatasia
AMTGlycine encephalopathy
ARG1Argininemia
ARSBMucopolysaccharidosis type VI
ASLArgininosuccinic aciduria
ASS1Citrullinemia
ATP8B1Progressive familial intrahepatic cholestasis-1
AUH13JF5274VuNthhwKkLrYyZW73smjSYAEen
BCHEPseudocholinesterase deficiency
BCKDHAMaple syrup urine disease type Ia
BCKDHBMaple syrup urine disease type Ib
BTDBiotinidase deficiency
CBSHomocystinuria with or without response to pyridoxine
CD320Methylmalonic aciduria due to transcobalamin receptor defect
COQ9Primary coenzyme Q10 deficiency-5
DBTMaple syrup urine disease, type II
DCLRE1CSevere combined immunodeficiency, Athabascan type
DDCAromatic L-amino acid decarboxylase deficiency
DHCR7Smith Lemlie Opitz syndrome
DLDDihydrolipoamide dehydrogenase deficiency
DMP1Hypophosphatemic rickets-1
DNAJC1913JF5274VuNthhwKkLrYyZW73smjSYAEen
DPAGT1Congenital disorder of glycosylation type Ij
DPYDDihydropyrimidine dehydrogenase deficiency
ENO3glycogen storage disease XIII
ETFAGlutaricacidemia II
ETFBGlutaricacidemia IIB
ETFDHGlutaricacidemia IIC
FAHTyrosinemia type I
FHFumarase deficiency
G6PCGlycogen storage disease 1a
GAAGlycogen storage disease II
GALEGalactose epimerase deficiency
GALK1Galactokinase deficiency
GALNSMucopolysaccharidosis type IVA
GALTGalactosemia
GAMTCerebral creatine deficiency syndrome 2
GBAperinatal lethal Gaucher disease, Gaucher disease type I, Gaucher disease type II, Gaucher disease type III, Gaucher disease type IIIC
GBE1Glycogen storage disease IV
GCDHGlutaricaciduria type I
GCSHGlycine encephalopathy
GLAFabry disease, cardiac variant Fabry disease
GLB1GM1 gangliosidosis type 1,2,3 Mucopolysaccharidosis type IVB
GLDCNonketotic hyperglycinemia
GM2AGM2-gangliosidosis, AB variant
GNMTGlycine N-methyltransferase deficiency
GNPTABMucolipidosois type II/IIIA
GNSMucopolysaccharidosis type IIID
GRHPRHyperoxaluria, primary, type II
GUSBMucopolysaccharidosis VII
HCFC1X-linked mental retardation-3 (methylmalonic acidemia and homocysteinemia, cblXtype )
HFEHemochromatosis type 1
HGSNATMucopolysaccharidosis type IIIC (Sanfilippo C), Retinitis pigment 73
HLCSHolocarboxylase synthetase deficiency
HMGCS23-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
HPDHawkinsinuria, tyrosinemia type III
IL2Severe combined immunodeficiency due to IL2 deficiency
IVDIsovalericacidemia
LDHAGlycogen storage disease XI
LIPAWolman disease
LMBRD1methylmalonic aciduria and homocystinuria, cblF type
MAT1AMethionine adenosyltransferase deficiency
MCCC13-methylcrotonylglycinuria I deficiency
MCCC23-methylcrotonylglycinuria II deficiency
MCEEMethylmalonyl-CoA epimerase deficiency
MCOLN1Mucolipidosis IV
MGAT2Congenital disorder of glycosylation type Iia
MLYCDMalonyl-CoA decarboxylase deficiency
MMAAMethylmalonic aciduria of the cblA complementation type
MMABMethylmalonic aciduria of the cblB complementation type
MMACHCcblC type of combined methylmalonic aciduria and homocystinuria
MMADHCCombined methylmalonic aciduria and homocystinuria, isolated homocystinuria, and isolated methylmalonic aciduria of complementation group cblD
MOGSCongenital disorder of glycosylation type IIb
MPICongenital disorder of glycosylation type Ib/F
MTHFRHomocystinuria due to methylenetetrahydrofolate reductase deficiency
MTRHomocystinuria-megaloblastic anemia, cblG complementation type
MTRRHomocystinuria-megaloblastic anemia, cblE complementation type
MUTMethylmalonic aciduria of the complementation group ‘mut’
NADK22,4-dienoyl-CoA reductase deficiency
NAGAKanzaki disease, Schindler disease types I and III
TMIEDeafness-6
NAGLUSanfilippo syndrome B/ Mucopolysaccharidosis type IIIB
NEU1Sialidosis types I and II
OPA33-methylglutaconic aciduria type III/ optic atrophy-3/ optic atrophy plus syndrome, Optic atrophy-3/ optic atrophy and cataract
OTCOrnithine transcarbamylase deficiency
OXCT1Succinyl-CoA:3-oxoacid-CoA transferase deficiency
PAHPhenylketonuria and non-PKU mild hyperphenylalaninemia
PCCAPropionic acidemia
PCCBPropionic acidemia
PMM2Congenital disorder of glycosylation type Ia
PSAPCombined SAP deficiency, Metachromaticleukodystrophy due to SAP-b deficiency, Atypical Krabbe disease, Atypical Gaucher disease
PYGMMcArdle disease/ Glycogen storage disease type V
RFT1Congenital disorder of glycosylation type In
SGSHMucopolysaccharidosis type IIIA (Sanfilippo A)
SLC12A1Antenatal Bartter syndrome type 1
SLC17A5Salla disease, Sialic acid storage disorder, infantile
SLC19A2Thiamine-responsive megaloblastic anemia syndrome
SLC22A5Primary systemic carnitine deficiency
SLC25A13Neonatal-onset type II citrullinemia/ neonatal intrahepatic cholestasis
SLC25A15Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A20Carnitine-acylcarnitine translocase deficiency
SLC35A1Congenital disorder of glycosylation type IIf
SLC35C1Congenital disorder of glycosylation type IIc
SLC37A4Glycogen storage disease Ib/ Ic
SLC6A8Cerebral creatine deficiency syndrome 1
SUMF1Multiple sulfatase deficiency
TATTyrosinemia type II
TJP2Progressive familial intrahepatic cholestasis-4

Gene
Phenotype in OMIM
BTKBrutonagammaglobulinemia
CYBBX-linked chronic granulomatous disease
IL2RGX-linked moderate combined immunodeficiency, X-linked severe combined immunodeficiency
NBNNijmegen breakage syndrome
NCF1Cytochrome b-positive chronic granulomatous disease type I
NCF2Cytochrome b-positive chronic granulomatous disease type II
NCF4Cytochrome b-positive chronic granulomatous disease type III
PPIACytochrome b-negative chronic granulomatous disease
PPIBX-linked chronic granulomatous disease

Gene
Phenotype in OMIM
HAX1Neutropenia, severe congenital 3, autosomal recessive

Gene
Phenotype in OMIM
ABCB11Progressive familial intrahepatic cholestasis-2
ABCB4Progressive familial intrahepatic cholestasis-3
ATP7BWilson disease
ATP8B1Progressive familial intrahepatic cholestasis-1
ATP8B2Progressive familial intrahepatic cholestasis-1
CPT1ACarnitine palmitoyltransferase deficiency I
CPT2Infantile form of carnitine palmitoyltransferase II deficiency
CPT2Lethal neonatal form of carnitine palmitoyltransferase II
CTNSCystinosis
CTSKPycnodysostosis
HGDAlkaptonuria
HMGCLHMG-CoA lyase deficiency
HMOX1heme oxygenase-1 deficiency
LDLRFamilial hypercholesterolemia
LPLCombined lipase deficiency
MOCS1Molybdenum cofactor deficiency of complementation group A
MOCS2Molybdenum cofactor deficiency of complementation group B
MVKHyper-IgD syndrome, Mevalonicaciduria
NAGSN-acetylglutamate synthase deficiency
NGLY1Congenital disorder of deglycosylation
NPC1Niemann-Pick disease type C1 and NIEMann-Pick disease type D
NPC2Niemann-Pick disease type C2
PCBD1Tetrahydrobiopterin -deficient hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
PKLRPyruvate kinase deficiency
PNPOPyridoxamine 5′-phosphate oxidase deficiency
SLC25A13Neonatal-onset type II citrullinemia/ neonatal intrahepatic cholestasis
SMPD1Niemann-Pick disease type A/ B
TJP2Progressive familial intrahepatic cholestasis-4
UBR1Johanson-Blizzard syndrome
UROSCongenital erythropoietic porphyriais

Gene
Phenotype in OMIM
ACAD9Mitochondrial complex I deficiency due to deficiency of acyl-CoA dehydrogenase-9
ARSAMetachromtaicleukodystrophy
BCS1LLeigh syndrome
BCS1LMitochondrial complex III deficiency, nuclear type 1
C10orf2Mitochondrial DNA depletion syndrome-7
COX10Leigh syndrome
COX10Mitochondrial complex IV deficiency
COX15Leigh syndrome due to cytochrome c oxidase deficiency
COX6B1Mitochondrial complex IV deficiency
CPS1Carbamoyl phosphate syntetase I
DGUOKMitochondrial DNA depletion syndrome-3
FASTKD2Mitochondrial complex IV deficiency
GFM1Combined oxidative phosphorylation deficiency 1
HADHBTrifunctional protein deficiency
LRPPRCFrench Canadian type of Leigh syndrome
MRPS16Combined oxidative phosphorylation deficiency-2
MRPS22Combined oxidative phosphorylation deficiency-5
NDUFAF2Leigh syndrome, Mitochondrial complex I deficiency
NDUFAF4Mitochondrial complex I deficiency
NDUFS3Leigh syndrome, Mitochondrial complex I deficiency
NDUFS4Leigh syndrome, Mitochondrial complex I deficiency
NDUFS6Mitochondrial complex I deficiency
NDUFS7Leigh syndrome
NDUFS8Leigh syndrome due to Mitochondrial complex I deficiency
NDUFV1Mitochondrial complex I deficiency
PCPyruvate carboxylase deficiency
PDSS2Primary coenzyme Q10 deficiency-3
SCO1Mitochondrial complex IV deficiency
SCO2fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-1
SUCLA2Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
SUCLG1Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with or without methylmalonic aciduria)
TK2Mitochondrial DNA depletion syndrome-2
TSFMCombined oxidative phosphorylation deficiency 3
TYMPMitochondrial DNA depletion syndrome-1 / neurogastrointestinal encephalopathy (MNGIE)
UQCRBMitochondrial complex III deficiency nuclear type 3
UQCRQMitochondrial complex III deficiency nuclear type 4
ALG6Congenital disorder of glycosylation type Ic
DPAGT1Congenital disorder of glycosylation type Ij
MGAT2Congenital disorder of glycosylation type Iia
MOGSCongenital disorder of glycosylation type IIb
MPICongenital disorder of glycosylation type Ib
PDHA1Pyruvate dehydrogenase E1-alpha deficiency
PMM2Congenital disorder of glycosylation type Ia
RFT1Congenital disorder of glycosylation type In
SLC35A1Congenital disorder of glycosylation type IIf
SLC35C1Congenital disorder of glycosylation type IIc

Gene
Phenotype in OMIM
AGPSRhizomelic chondrodysplasia punctata type 3
ARSEX-linked recessive chondrodysplasia punctata
ATDAsphixiating thoracic dystrophy
BCS1LGRACILE syndrome
CA2Osteopetrosis
CLCN1Myotoniacongenita
CLCN7Osteopetrosis-2
CLCN7Osteopetrosis-4
COL2A1Achondrogenesis type II
COL6A1Bethlem myopathy-1
COL6A1Ullrich congenital muscular dystrophy-1
COL6A2Bethlem myopathy-1
COL6A2Ullrich congenital muscular dystrophy-1
COL6A3Bethlem myopathy-1
COL6A3Ullrich congenital muscular dystrophy-1
CRTAPOsteogenesis imperfecta type VII
DLL3Spondylocostal dysostosis-1
DYNC2H1Short-rib thoracic dysplasia-3 with or without polydactyly
DYSFMiyoshi muscular dystrophy-1
DYSFMiyoshi muscular dystrophy-1
EVC2Weyers acrofacial dysostosis
FIG4Yunis-Varon syndrome
FLNAFrontometaphyseal dysplasia-1
GLE1Arthrogryposis, lethal, with anterior horn cell disease
GNEInclusion body myopathy2, Nonaka myopathy
LAMA2Merosin-deficient congenital muscular dystrophy
LARGEMuscular dystrophy cong. Type 1 D , Walker Warburg type A
LEPRE1Osteogenesis imperfecta, type VIII
LIFRStuve-Wiedemann syndrome / neonatal Schwartz-Jampel syndrome type 2 (SJS2)
MAN2B1alpha-mannosidosis
MESP2Spondylocostal dysostosis-2
PLP1Pelizaeus-Merzbacher disease
RYR1Minicore myopathy with external Ophthalmologymoplegia
SACSSpastic ataxia, Charlevoix-Saguenay type
SEPN1Rigid spine muscular dystrophy-1
SGCALimb-girdle muscular dystrophy type 2D
SGCBLimb-girdle muscular dystrophy type 2E
SGCDLimb-girdle muscular dystrophy type 2F
SGCGLimb-girdle muscular dystrophy type 2C
SIL1Marinesco-Sjogren syndrome
SLC26A2Diastrophic dysplasia ,AchondrogenesisIb, Epiphyseal dysplasia, 4
SPG11Spastic paraplegia-11
TCAPLimb-girdle muscular dystrophy type 2G
TCIRG1Osteopetrosis type 1
TNNT1Amish nemaline myopathy
TRIM32Limb-girdle muscular dystrophy type 2H
TRIM37Mulibreynanism
TRIP11Achondrogenesis type IA
TTNMyopathy, early-onset, with fatal cardiomyopathy
TTPAAtaxia with isolated vitamin E deficiency
UBA1X-linked form of infantile X-linked spinal muscular atrophy
VDRVitamin D-dependent rickets type 2A

Gene
Phenotype in OMIM
CEP290Meckel syndrome 4
COL4A3Alport syndrome
COL4A4Alport syndrome
LAMB2Pierson syndrome
NPHP3Meckel syndrome 7, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1
NPHP4Nephronophthisis 4, Senior-Loken syndrome 4
NPHS1Nephrotic syndrome type 1
PDCNNephrotic syndrome type 2
OCRLDent disease-2, Lowe syndrome
PKHD1Polycystic kidney disease
PLCE1Nephrotic syndrome type 3
RPGRIP1LCOACH syndrome, Joubert syndrome 7, Meckel syndrome 5
SLC26A1Calcium oxalate nephrolithiasis
TMEM67Meckel syndrome type 3
TMEM216Meckel syndrome 2

Gene
Phenotype in OMIM
CLN3Neuronal ceroid lipofuscinosis-3
ERCC6Cockayne syndrome B
ERCC6Cerebrooculofacioskeletal syndrome-1
GALCKrabbe disease
HEXAGM2 Tay Sach disease
HEXBGM2 Sandhoff disease
PANK2HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), Neurodegeneration with brain iron accumulation-1 (Hallervorden-Spatz disease)
PLA2G6Infantile neuroaxonal dystrophy 1, Neurodegeneration with brain iron accumulation NBIA2B
PPT1Neuronal ceroid lipofuscinosis-1
TPP1Neuronal ceroid lipofuscinosis-2
CLN5Neuronal ceroid lipofuscinosis-5
CLN6Neuronal ceroid lipofuscinosis-6
CLN8Neuronal ceroid lipofuscinosis-8
EIF2B5Leukoencephalopathy with vanishing white matter
ERCC8Cockayne syndrome A
ESCO2Roberts syndrome
FAM126AHypomyelinating leukodystrophy-5
FOLR1cerebral folate transport deficiency
FXNFriedreich ataxia
GANGiant axonal neuropathy-1
GJC2Leukodystrophy, hypomyelinting, Lymphedema, IC, Spastic paraplegia 44
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency, X-linked syndromic mental retardation-10
HSPD1Hypomyelinating leukodystrophy-4
MFSD8Neuronal ceroid lipofuscinosis-7
MLC1Megalencephalic leukoencephalopathy with subcortical cysts-1
PDHA1Pyruvate dehydrogenase E1-alpha deficiency
POMGNT1Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
POMT1Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1, B1, C1
POMT2Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2, B2, C2
RELNLissencephaly 2 (Norman-Roberts type)
RNASET2Cystic leukoencephalopathy without megalencephaly
SLC12A6Agenesis of the corpus callosum with peripheral neuropathy /Andermann syndrome
TAF1X-linked dystonia-parkinsonism
TSEN54Pontocerebellar hypoplasia type 2a, 4, 5
VPS13AChoreoacanthocytosis
WFS1Wolfram syndrome
PSAPComb SAP deficiency, Metachromaticleukodystrophy due to SAP-b deficiency, Atypical Krabbe disease, Atypical Gaucher disease

Gene
Phenotype in OMIM
ABCD1Adrenoleukodystrophy
ALDH7A1Pyridoxine-dependent epilepsy
ARXEarly infantile epileptic encephalopathy-1
ASPACanavan disease
ASPMMicrocephaly
ATMAtaxia telengiectasia
ATRSeckel syndrome 1
ATRXalpha-thalassemia/mental retardation syndrome
CDK5RAP2Primary microcephaly-3
CENPJPrimary microcephaly-6
CEP152Primary microcephaly-9
CEP290Joubert syndrome
CEP290Meckel syndrome 4
CSTBMyoclonic epilepsy of Unverricht and Lundborg
CYP27A1Cerebrotendinousxanthomatosis
EPM2Amyoclonic epilepsy of Lafora
FIG4Yunis-Varon syndrome
FLVCR1Posterior column ataxia with retinitis pigmentosa
GCH1BH4-deficient hyperphenylalaninemia B, dopa-responsive dystonia with or without hyperphenylalaninemia
HPRT1Lesch-Nyhan syndrome
IGBP1Corpus callosum with mental retardation, ocular coloboma and micrognathia
INPP5EJoubert syndrome 1
KIF7Acrocallosal syndrome, Joubert syndrome-12
MCPH1Primary microcephaly-1
MECP2Rett syndrome
MYO5AGriscelli syndrome
MTTPAbetalipoproteinemia
NGLY1Congenital disorder of deglycosylation
NHEJ1Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NHLRC1Myoclonic epilepsy of Lafora/ Progressive myoclonic epilepsy-2
NPHP1Joubert syndrome 4, Senior-Loken syndrome-1, Nephronophthisis-1
NPHP3Meckel syndrome 7, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1
NTRK1Congenital insensitivity to pain with anhidrosis
OFD1Joubert syndrome-10, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2
PEX1Heimler syndrome-1, Zellweger syndrome
PEX12Peroxisome biogenesis disorder
PEX7Rhizomelic chondrodysplasia punctata type 1
PLP1Pelizaeus-Merzbacher disease
PNPImmunodeficiency due to purine nucleoside phosphorylase deficiency
PRODHhyperprolinemia type I
PRSS12Nonsyndromic mental retardation-1
PTSTetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to PTS deficiency (HPABH4A)
QDPRtetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to dihydropteridine reductase deficiency (HPABH4C)
RPGRIP1LCOACH syndrome, Joubert syndrome 7, Meckel syndrome 5
SAMHD1Aicardi-Goutieres syndrome-5
SERAC13-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)
SLC25A22Early infantile epileptic encephalopathy-3
ST3GAL3Early infantile epileptic encephalopathy-15, nonsyndromic mental retardation-12
STILPrimary microcephaly-7
THSegawa syndrome
TIMM8AMohr-Tranebjaerg syndrome
TMEM216Joubert syndrome 2 | Meckel syndrome 2
TMEM67Meckel syndrome type 3
TREX1Aicardi-Goutieres syndrome-1
TUBA1ALissencephaly-3
UGT1A1Crigler-Najjar syndrome type I
VPS13BCohen syndrome
WDR62primary microcephaly-2

Gene
Phenotype in OMIM
CAPN3Limb-girdle muscular dystrophy type 2A
DMDDuchenne muscular dystrophy
EMDX-linked Emery-Dreifuss muscular dystrophy-1
EVCEllis-van Creveld syndrome
EVC2Ellis-van Creveld syndrome
FKRPCongenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
FKTNCongenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
FKTNCongenital muscular dystrophy-dystroglycanopathy without mental retardation
FKTNLimb-girdle muscular dystrophy-dystroglycanopathy
GDAP1Charcot-Marie-Tooth disease, type 4A
GJB1X-linked Charcot-Marie-Tooth disease
IKBKAPFamilial dysautonomia
LMNACharcot-Marie-Tooth type 2B1, Emery-Dreifuss muscular dystrophy-3, Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia type A, lethal restrictive dermopathy
MED25Charcot-Marie-Tooth disease type 2B2, Basel-Vanagaite-Smirin-Yosef syndrome
MTM1X-linked myotubular myopathy-1
MTMR2Charcot-Marie-Tooth disease, type 4B1
NDRG1Charcot-Marie-Tooth disease type 4D/ Lom type of hereditary motor and sensory neuropathy
NEBNemaline myopathy-2
NEFLCharcot-Marie-Tooth disease type 1F
PLEKHG5Intermediate Charcot-Marie-Tooth disease C, Distal spinal muscular atrophy 4
PRPS1Arts syndrome, Charcot-Marie-Tooth disease-5, X-linked deafness-1
PRXCharcot-Marie-Tooth disease type 4F | Dejerine-Sottas disease
SBF2Charcot-Marie-Tooth disease type 4B2
SH3TC2Charcot-Marie-Tooth disease type 4C
SMN1Spinal muscular atrophy-1/ 2
SURF1Charcot-Marie-Tooth disease type 4K, Leigh syndrome, due to COX IV deficiency

Gene
Phenotype in OMIM
NKX2-5Atrial septal defect 7 with or without AV conduction defects, variable conotruncal heart malformations, hypoplastic left heart syndrome 2, congenital nongoitrous hypothyroidism-5, tetrology of Fallot, ventricular septal defect 3
TSPYL1Sudden infant death with dysgenesis of the testes syndrome

Gene
Phenotype in OMIM
ARL6Bardet-Biedl syndrome 3
BBS1Bardet-Biedl syndrome 1
BBS10Bardet Biedel syndrome 10
C10orf2Perrault syndrome 5
DNAH5Primary ciliary dyskinesia-3
HSD17B4D-bifunctional protein deficiency, Perrault syndrome 1
MKKSBardet-Biedl syndrome-6, McKusick-Kaufman syndrome

Gene
Phenotype in OMIM
ABCA3Surfactant metabolism dysfunction-3
DNAH5Primary ciliary dyskinesia-3
SERPINA1Alpha-1-antitrypsin deficiency
SFTPCPulmonary surfactant metabolism dysfunction-2

Gene
Phenotype in OMIM
ANTXR2Hyaline fibromatosis syndrome
HSPG2Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia
IFT80Short-rib thoracic dystrophy-2 with or without polydactyly
MATN3Spondyloepimetaphyseal dysplasia
NEK1Short-rib thoracic dysplasia-6 with or without polydactyly
WISP3Progressive pseudorheumatoidarthropathy of childhood
EIF2AK3Wolcott-Rallison syndrome
PEX7Rhizomelic chondrodysplasia punctata type 1

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