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Inheritest® Gene Lists

Inheritest® 500 Plus Planel

Condition Gene(s)
3-Methylcrotonyl-CoA carboxylase deficiency MCCC1, MCCC2
3M syndrome CCDC8, CUL7, OBSL1
Abetalipoproteinemia MTTP
Achromatopsia CNGB3
Acrodermatitis enteropathica SLC39A4
Acute infantile liver failure LARS1, NBAS, TRMU
Adenosine deaminase deficiency ADA
Adrenoleukodystrophy, X-linked ABCD1
Agammaglobulinemia, X-linked BTK
Aicardi-Goutières syndrome RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1
Allan-Herndon-Dudley syndrome SLC16A2
Alpha-mannosidosis MAN2B1
Alpha-thalassemia HBA1, HBA2
Alpha-thalassemia X-linked intellectual disability syndrome ATRX
Alport syndrome COL4A3, COL4A4, COL4A5
Alström syndrome ALMS1
Andermann syndrome SLC12A6
Arginase deficiency ARG1
Argininosuccinic aciduria ASL
Aromatic l-amino acid decarboxylase deficiency DDC
Arterial tortuosity syndrome SLC2A10
Arthrogryposis, mental retardation, and seizures (AMRS) SLC35A3
Asparagine synthetase deficiency ASNS
Aspartylglucosaminuria AGA
Ataxia-telangiectasia ATM
Ataxia with vitamin E deficiency TTPA
ATP7A-related copper transport disorders, includes Menkes syndrome ATP7A
Atransferrinemia TF
Autoimmune polyglandular syndrome type 1 AIRE
Autosomal recessive congenital ichthyosis (ARCI) ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, TGM1
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) SACS
Axonal neuropathy with neuromyotonia HINT1
Bardet-Biedl syndrome ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, MKKS, SDCCAG8, TTC8
Bare lymphocyte syndrome type II CIITA, RFX5, RFXANK, RFXAP
Barth syndrome TAFAZZIN
Bartter syndrome BSND, KCNJ1, SLC12A1
Basal ganglia disease, biotin-thiamine-responsive SLC19A3
Beta-hemoglobinopathies, includes sickle cell disease and beta-thalassemias HBB
Beta-ketothiolase deficiency ACAT1
Beta-mannosidosis MANBA
Biotinidase deficiency, profound and partial BTD
Bloom syndrome BLM
Brittle cornea syndrome PRDM5, ZNF469
Canavan disease ASPA
Carbamoyl phosphate synthetase I deficiency CPS1
Carnitine-acylcarnitine translocase deficiency SLC25A20
Carnitine palmitoyltransferase I deficiency CPT1A
Carnitine palmitoyltransferase II deficiency CPT2
Carpenter syndrome RAB23
Cartilage-hair hypoplasia RMRP
Cerebellar hypoplasia, VLDLR-associated VLDLR
Cerebral creatine deficiency syndromes GAMT, GATM, SLC6A8
Cerebrotendinous xanthomatosis CYP27A1
Chediak-Higashi syndrome LYST
Chorea-acanthocytosis VPS13A
Chronic granulomatous disease CYBA, CYBB, NCF2, NCF4
Ciliopathies CEP290, MKS1
Citrullinemia ASS1, SLC25A13
Coats plus syndrome and dyskeratosis congenita, CTC1-related CTC1
Cockayne syndrome ERCC6, ERCC8
Coffin-Lowry syndrome RPS6KA3
Cohen syndrome VPS13B
Cold-induced sweating syndrome, includes Crisponi syndrome CLCF1, CRLF1
Combined malonic and methylmalonic aciduria ACSF3
Combined oxidative phosphorylation deficiency GFM1, TSFM
Combined pituitary hormone deficiency LHX3, PROP1
Congenital adrenal hyperplasia CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, STAR
Congenital adrenal hypoplasia, X-linked NR0B1
Congenital amegakaryocytic thrombocytopenia MPL
Congenital arthrogryposis with anterior horn cell disease GLE1
Congenital disorder of deglycosylation NGLY1
Congenital disorders of glycosylation ALG1, ALG6, MPI, PMM2
Congenital generalized lipodystrophy AGPAT2, CAVIN1
Congenital hydrocephalus 1 CCDC88C
Congenital insensitivity to pain with anhidrosis NTRK1
Congenital myasthenic syndrome CHAT, CHRNE, COLQ, DOK7, GFPT1, RAPSN
Corneal dystrophy and perceptive deafness SLC4A11
Costeff syndrome OPA3
Cutis laxa ATP6V0A2, ATP6V1E1, EFEMP2, LTBP4, PYCR1
Cystic fibrosis CFTR
Cystinosis CTNS
D-bifunctional protein deficiency HSD17B4
Danon disease LAMP2
Deafness and hearing loss, nonsyndromic GJB2, LOXHD1, OTOF, POU3F4, SYNE4
Dent disease CLCN5, OCRL
Developmental and epileptic encephalopathy ARX, CAD, ITPA
Dihydrolipoamide dehydrogenase deficiency DLD
Dihydropyrimidine dehydrogenase deficiency DPYD
Distal spinal muscular atrophy PLEKHG5
Donnai-Barrow syndrome LRP2
Dystrophic epidermolysis bullosa COL7A1
Dystrophinopathies, including Duchenne and Becker muscular dystrophy and X-linked cardiomyopathy DMD
Ehlers Danlos syndrome, ADAMTS2-related ADAMTS2
Ehlers–Danlos-like syndrome TNXB
Ellis-van Creveld syndrome EVC2
Emery-Dreifuss muscular dystrophy EMD, FHL1
Ethylmalonic encephalopathy ETHE1
Fabry disease GLA
Factor IX deficiency (hemophilia B) F9
Familial dysautonomia ELP1
Familial hemophagocytic lymphohistiocytosis PRF1, STX11, STXBP2, UNC13D
Familial hyperinsulinism ABCC8
Familial Mediterranean fever MEFV
Fanconi anemia BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL
Fragile X syndrome FMR1
Fraser syndrome FRAS1, FREM2, GRIP1
Fucosidosis FUCA1
Galactosemia GALE, GALK1, GALT
Galactosialidosis CTSA
Gaucher disease GBA1
Glutaric acidemia type I GCDH
Glutaric acidemia type II ETFA, ETFB, ETFDH
Glutathione synthetase deficiency GSS
Glycine encephalopathy AMT, GLDC
Glycogen storage disease type I G6PC1, SLC37A4
Glycogen storage disease type III AGL
Glycogen storage disease type IV GBE1
Glycogen storage disease type IX PHKA1, PHKA2, PHKB, PHKG2
Glycogen storage disease type V PYGM
Glycogen storage disease type VII PFKM
GM1 gangliosidosis and mucopolysaccharidosis type IVB GLB1
GRACILE syndrome BCS1L
Gyrate atrophy of choroid and retina OAT
Hepatic venoocclusive disease with immunodeficiency SP110
Hereditary folate malabsorption SLC46A1
Hereditary fructose Intolerance ALDOB
Hereditary spastic paraplegia CYP7B1, SPG11, SPG21, TECPR2
Hermansky-Pudlak syndrome AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6
HMG-CoA lyase deficiency HMGCL
Holocarboxylase synthetase deficiency HLCS
Homocystinuria CBS, MTRR
HSD10 disease HSD17B10
Hyaline fibromatosis syndrome ANTXR2
Hydrolethalus syndrome HYLS1
Hyper IgM syndrome, X-linked CD40LG
Hypohidrotic ectodermal dysplasia EDA
Hypomyelination and congenital cataract HYCC1
Hypophosphatasia ALPL
Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome CDCA7, DNMT3B, HELLS, ZBTB24
Immunodeficiency with hyper IgM syndrome AICDA, CD40, UNG
Inclusion body myopathy 2 GNE
Intellectual developmental disorder, NONO-related NONO
IPEX syndrome FOXP3
Isovaleric acidemia IVD
Joubert syndrome and related disorders, including Meckel-Gruber syndrome AHI1, ARL13B, B9D1, B9D2, CC2D2A, CEP104, CPLANE1, INPP5E, KIF14, NPHP1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM67, TMEM138, TMEM216, TMEM231, TMEM237
Junctional epidermolysis bullosa LAMA3, LAMB3, LAMC2
Juvenile hereditary hemochromatosis HAMP, HJV
Juvenile retinoschisis, X-linked RS1
Krabbe disease GALC
L1 syndrome L1CAM
Leber congenital amaurosis AIPL1, LCA5, LRAT, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
Leigh syndrome FBXL4, FOXRED1, LRPPRC, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, SURF1
Leukoencephalopathy with vanishing white matter EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
Limb-girdle muscular dystrophy CAPN3, DYSF, FKRP, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TRAPPC11, TRIM32
Lipoprotein lipase deficiency, familial LPL
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency HADHA
Lysinuric protein intolerance SLC7A7
Lysosomal acid lipase deficiency LIPA
Macular corneal dystrophy CHST6
Maple syrup urine disease BCKDHA, BCKDHB, DBT
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency ACADM
Megalencephalic leukoencephalopathy with subcortical cysts type 1 MLC1
Metachromatic leukodystrophy ARSA, PSAP
Methylmalonic acidemia MCEE, MMAA, MMAB, MMUT
Methylmalonic acidemia with homocystinuria ABCD4, HCFC1, LMBRD1, MMACHC, MMADHC
Mevalonate kinase deficiency MVK
Microcephaly, postnatal progressive, with seizures and brain atrophy MED17
Mitochondrial complex deficiency SCO2
Mitochondrial complex I deficiency ACAD9
Mitochondrial complex V deficiency TMEM70
Mitochondrial DNA depletion syndrome, MPV17-related MPV17
Mitochondrial DNA depletion syndrome, TK2-related TK2
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia PUS1
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease TYMP
Mitochondrial trifunctional protein deficiency HADHB
Molybdenum cofactor deficiency GPHN, MOCS1, MOCS2
Mucolipidosis III gamma GNPTG
Mucolipidosis type II and III GNPTAB
Mucolipidosis type IV MCOLN1
Mucopolysaccharidosis type I IDUA
Mucopolysaccharidosis type II IDS
Mucopolysaccharidosis type III GNS, HGSNAT, NAGLU, SGSH
Mucopolysaccharidosis type IVA GALNS
Mucopolysaccharidosis type IX HYAL1
Mucopolysaccharidosis type VI ARSB
Mucopolysaccharidosis type VII GUSB
Multiple pterygium syndrome CHRNG
Multiple sulfatase deficiency SUMF1
Muscular dystrophy, LAMA2-related LAMA2
Myotonia congenita CLCN1
Myotubular myopathy MTM1
N-acetylglutamate synthetase deficiency NAGS
Nemaline myopathy NEB
Nephrogenic diabetes insipidus AVPR2
Nephrotic syndrome NPHS1, NPHS2
Neurodegeneration with brain iron accumulation disorder ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, PLA2G6
Neuronal ceroid-lipofuscinosis CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, KCTD7, MFSD8, PPT1, TPP1
Niemann-Pick disease type C NPC1, NPC2
Niemann-Pick disease types A and B SMPD1
Nijmegen breakage syndrome NBN
Oculocutaneous albinism OCA2, TYR
Omenn syndrome DCLRE1C, RAG1, RAG2
Opitz G/BBB syndrome MID1
Ornithine transcarbamylase deficiency OTC
Ornithine translocase deficiency SLC25A15
Osteogenesis imperfecta, autosomal recessive BMP1, CRTAP, FKBP10, P3H1, PLOD2, PPIB, SERPINF1, TMEM38B, WNT1
Osteopetrosis OSTM1, TCIRG1, TNFSF11
Pantothenate kinase-associated neurodegeneration PANK2
Pelizaeus-Merzbacher disease PLP1
Pendred syndrome SLC26A4
Peroxisomal acyl-CoA oxidase deficiency ACOX1
Phenylalanine hydroxylase deficiency, includes phenylketonuria (PKU) PAH
Phosphoglycerate dehydrogenase deficiency PHGDH
Pitt-Hopkins-like syndrome 1 CNTNAP2
POLG-related disorders POLG
Polycystic kidney disease, autosomal recessive PKHD1
Polymicrogyria ADGRG1
Pompe disease GAA
Pontocerebellar hypoplasia AMPD2, CHMP1A, CLP1, EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VPS53, VRK1
Primary congenital glaucoma CYP1B1
Primary hyperoxaluria AGXT, GRHPR, HOGA1
Primary microcephaly MCPH1
Progressive familial intrahepatic cholestasis ABCB4, ABCB11, ATP8B1
Progressive pseudorheumatoid dysplasia CCN6
Propionic acidemia PCCA, PCCB
Pseudocholinesterase deficiency BCHE
Pulmonary surfactant metabolism dysfunction ABCA3
Pycnodysostosis CTSK
Pyridoxal 5'-phosphate-dependent epilepsy PNPO
Pyridoxine-dependent epilepsy ALDH7A1
Pyruvate carboxylase deficiency PC
Pyruvate dehydrogenase deficiency PDHA1, PDHB, PDHX, PDP1
Renal tubular acidosis with deafness ATP6V0A4, ATP6V1B1
Retinitis pigmentosa CERKL, CNGA1, CNGB1, CWC27, DHDDS, EYS, FAM161A, IFT140, MAK, PRCD, RLBP1, RP2, RPGR
Rhizomelic chondrodysplasia punctata AGPS, GNPAT, PEX7
Roberts syndrome ESCO2
Sandhoff disease HEXB
Schimke immunoosseous dysplasia SMARCAL1
Schindler disease NAGA
SELENON-related disorders SELENON
Severe combined immunodeficiency (SCID) AK2, CD3D, CD3E, CD3G, CD8A, CD247, CORO1A, DOCK8, FOXN1, IKBKB, IL2RA, IL7R, JAK3, LCK, LIG4, MALT1, MTHFD1, NHEJ1, PGM3, PNP, PRKDC, PTPRC, STK4, TTC7A, ZAP70
Severe combined Immunodeficiency (SCID), X-linked IL2RG
Severe congenital neutropenia HAX1, VPS45
Short-rib thoracic dysplasia DYNC2H1
Short/branched chain acyl-CoA dehydrogenase deficiency ACADSB
Sialic acid storage disorders SLC17A5
Sialidosis NEU1
Sjogren-Larsson syndrome ALDH3A2
Smith-Lemli-Opitz syndrome DHCR7
Spinal muscular atrophy SMN1
Spinocerebellar ataxia 10 ANO10
Spondylothoracic dysostosis MESP2
Stüve-Wiedemann syndrome LIFR
Sulfate transporter-related osteochondrodysplasias, includes achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia SLC26A2
Sulfite oxidase deficiency SUOX
Systemic primary carnitine deficiency SLC22A5
Tay-Sachs disease HEXA
Tetrahydrobiopterin deficiency PCBD1, PTS, QDPR
Trichohepatoenteric syndrome SKIC2, SKIC3
Trimethylaminuria FMO3
Triple A syndrome AAAS
Tyrosine hydroxylase deficiency TH
Tyrosinemia type I FAH
Tyrosinemia type II TAT
Tyrosinemia type III HPD
Usher syndrome (hearing loss and retinitis pigmentosa) ADGRV1, CDH23, CIB2, CLRN1, MYO7A, PCDH15, USH1C, USH1G, USH2A, WHRN
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency ACADVL
Vitamin D-dependent rickets CYP27B1
Walker-Warburg syndrome and other FKTN related dystrophies FKTN
Werner syndrome WRN
Wilson disease ATP7B
Wiskott-Aldrich syndrome WAS
Xeroderma pigmentosum DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Zellweger spectrum disorder/ peroxisome biogenesis disorder PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26
No Results Found.

Inheritest® 300 Plus Planel

Condition Gene(s)
3-Methylcrotonyl-CoA carboxylase deficiency MCCC1, MCCC2
Abetalipoproteinemia MTTP
Achromatopsia CNGB3
Adenosine deaminase deficiency ADA
Adrenoleukodystrophy, X-linked ABCD1
Aicardi-Goutières syndrome RNASEH2B
Alpha-mannosidosis MAN2B1
Alpha-thalassemia HBA1, HBA2
Alport syndrome COL4A3, COL4A4, COL4A5
Alström syndrome ALMS1
Andermann syndrome SLC12A6
Argininosuccinic aciduria ASL
Arthrogryposis, mental retardation, and seizures (AMRS) SLC35A3
Aspartylglucosaminuria AGA
Ataxia-telangiectasia ATM
Ataxia with vitamin E deficiency TTPA
Atransferrinemia TF
Autoimmune polyglandular syndrome type 1 AIRE
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) SACS
Bardet-Biedl syndrome ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, MKKS, SDCCAG8, TTC8
Basal ganglia disease, biotin-thiamine-responsive SLC19A3
Beta-hemoglobinopathies, includes sickle cell disease and beta-thalassemias HBB
Beta-ketothiolase deficiency ACAT1
Beta-mannosidosis MANBA
Biotinidase deficiency, profound and partial BTD
Bloom syndrome BLM
Canavan disease ASPA
Carbamoyl phosphate synthetase I deficiency CPS1
Carnitine-acylcarnitine translocase deficiency SLC25A20
Carnitine palmitoyltransferase II deficiency CPT2
Cartilage-hair hypoplasia RMRP
Cerebral creatine deficiency syndromes GAMT, GATM, SLC6A8
Cerebrotendinous xanthomatosis CYP27A1
Ciliopathies CEP290, MKS1
Citrullinemia ASS1, SLC25A13
Cohen syndrome VPS13B
Congenital adrenal hyperplasia CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, STAR
Congenital adrenal hypoplasia, X-linked NR0B1
Congenital amegakaryocytic thrombocytopenia MPL
Congenital disorders of glycosylation ALG1, ALG6, MPI, PMM2
Congenital hydrocephalus 1 CCDC88C
Congenital myasthenic syndrome CHRNE
Cystic fibrosis CFTR
Cystinosis CTNS
D-bifunctional protein deficiency HSD17B4
Deafness and hearing loss, nonsyndromic GJB2, LOXHD1, OTOF, POU3F4, SYNE4
Developmental and epileptic encephalopathy ARX
Dihydrolipoamide dehydrogenase deficiency DLD
Dihydropyrimidine dehydrogenase deficiency DPYD
Donnai-Barrow syndrome LRP2
Dystrophic epidermolysis bullosa COL7A1
Dystrophinopathies, including Duchenne and Becker muscular dystrophy and X-linked cardiomyopathy DMD
Ehlers Danlos syndrome, ADAMTS2-related ADAMTS2
Ehlers–Danlos-like syndrome TNXB
Ellis-van Creveld syndrome EVC2
Ethylmalonic encephalopathy ETHE1
Fabry disease GLA
Factor IX deficiency (hemophilia B) F9
Familial dysautonomia ELP1
Familial hemophagocytic lymphohistiocytosis PRF1, STX11, STXBP2, UNC13D
Familial hyperinsulinism ABCC8
Familial Mediterranean fever MEFV
Fanconi anemia BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL
Fragile X syndrome FMR1
Fraser syndrome FRAS1, FREM2, GRIP1
Fucosidosis FUCA1
Galactosemia GALE, GALK1, GALT
Galactosialidosis CTSA
Gaucher disease GBA1
Glutaric acidemia type I GCDH
Glutathione synthetase deficiency GSS
Glycine encephalopathy AMT, GLDC
Glycogen storage disease type I G6PC1, SLC37A4
Glycogen storage disease type III AGL
Glycogen storage disease type IV GBE1
GM1 gangliosidosis and mucopolysaccharidosis type IVB GLB1
GRACILE syndrome BCS1L
Hereditary fructose Intolerance ALDOB
Hermansky-Pudlak syndrome HPS1, HPS3
HMG-CoA lyase deficiency HMGCL
Holocarboxylase synthetase deficiency HLCS
Homocystinuria CBS
Hydrolethalus syndrome HYLS1
Hypophosphatasia ALPL
Isovaleric acidemia IVD
Joubert syndrome and related disorders, including Meckel-Gruber syndrome AHI1, ARL13B, B9D1, B9D2, CC2D2A, CEP104, CPLANE1, INPP5E, KIF14, NPHP1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM67, TMEM138, TMEM216, TMEM231, TMEM237
Junctional epidermolysis bullosa LAMA3, LAMB3, LAMC2
Juvenile retinoschisis, X-linked RS1
Krabbe disease GALC
L1 syndrome L1CAM
Leigh syndrome FBXL4, FOXRED1, LRPPRC, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, SURF1
Limb-girdle muscular dystrophy CAPN3, DYSF, FKRP, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TRAPPC11, TRIM32
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency HADHA
Lysosomal acid lipase deficiency LIPA
Maple syrup urine disease BCKDHA, BCKDHB, DBT
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency ACADM
Megalencephalic leukoencephalopathy with subcortical cysts type 1 MLC1
Metachromatic leukodystrophy ARSA, PSAP
Methylmalonic acidemia MCEE, MMAA, MMAB, MMUT
Methylmalonic acidemia with homocystinuria ABCD4, HCFC1, LMBRD1, MMACHC, MMADHC
Mevalonate kinase deficiency MVK
Mitochondrial complex deficiency SCO2
Mucolipidosis type II and III GNPTAB
Mucolipidosis type IV MCOLN1
Mucopolysaccharidosis type I IDUA
Mucopolysaccharidosis type II IDS
Mucopolysaccharidosis type III GNS, HGSNAT, NAGLU, SGSH
Mucopolysaccharidosis type IVA GALNS
Mucopolysaccharidosis type VI ARSB
Mucopolysaccharidosis type VII GUSB
Multiple sulfatase deficiency SUMF1
Myotonia congenita CLCN1
Nemaline myopathy NEB
Nephrotic syndrome NPHS1, NPHS2
Neuronal ceroid-lipofuscinosis CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, KCTD7, MFSD8, PPT1, TPP1
Niemann-Pick disease type C NPC1, NPC2
Niemann-Pick disease types A and B SMPD1
Nijmegen breakage syndrome NBN
Oculocutaneous albinism OCA2, TYR
Omenn syndrome DCLRE1C, RAG1, RAG2
Opitz G/BBB syndrome MID1
Ornithine transcarbamylase deficiency OTC
Pelizaeus-Merzbacher disease PLP1
Pendred syndrome SLC26A4
Phenylalanine hydroxylase deficiency, includes phenylketonuria (PKU) PAH
Phosphoglycerate dehydrogenase deficiency PHGDH
POLG-related disorders POLG
Polycystic kidney disease, autosomal recessive PKHD1
Pompe disease GAA
Pontocerebellar hypoplasia RARS2
Primary hyperoxaluria AGXT, GRHPR, HOGA1
Primary microcephaly MCPH1
Propionic acidemia PCCA, PCCB
Pulmonary surfactant metabolism dysfunction ABCA3
Pyruvate dehydrogenase deficiency PDHA1, PDHB, PDHX, PDP1
Retinitis pigmentosa CERKL, CNGA1, CNGB1, CWC27, DHDDS, EYS, FAM161A, IFT140, MAK, PRCD, RLBP1, RP2, RPGR
Rhizomelic chondrodysplasia punctata AGPS, GNPAT, PEX7
Sandhoff disease HEXB
Schindler disease NAGA
Severe combined immunodeficiency (SCID) AK2, CD3D, CD3E, CD3G, CD8A, CD247, CORO1A, DOCK8, FOXN1, IKBKB, IL2RA, IL7R, JAK3, LCK, LIG4, MALT1, MTHFD1, NHEJ1, PGM3, PNP, PRKDC, PTPRC, STK4, TTC7A, ZAP70
Severe combined Immunodeficiency (SCID), X-linked IL2RG
Short-rib thoracic dysplasia DYNC2H1
Sialic acid storage disorders SLC17A5
Sialidosis NEU1
Sjogren-Larsson syndrome ALDH3A2
Smith-Lemli-Opitz syndrome DHCR7
Spinal muscular atrophy SMN1
Spinocerebellar ataxia 10 ANO10
Sulfate transporter-related osteochondrodysplasias, includes achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia SLC26A2
Systemic primary carnitine deficiency SLC22A5
Tay-Sachs disease HEXA
Trimethylaminuria FMO3
Tyrosinemia type I FAH
Usher syndrome (hearing loss and retinitis pigmentosa) ADGRV1, CDH23, CIB2, CLRN1, PCDH15, USH1C, USH1G, USH2A, WHRN
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency ACADVL
Vitamin D-dependent rickets CYP27B1
Walker-Warburg syndrome and other FKTN related dystrophies FKTN
Wilson disease ATP7B
Xeroderma pigmentosum DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Zellweger spectrum disorder/ peroxisome biogenesis disorder PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26
No Results Found.

Inheritest® 100 Plus Planel

Condition Gene(s)
Abetalipoproteinemia MTTP
Adenosine deaminase deficiency ADA
Alpha-mannosidosis MAN2B1
Alpha-thalassemia HBA1, HBA2
Alport syndrome COL4A3
Andermann syndrome SLC12A6
Argininosuccinic aciduria ASL
Arthrogryposis, mental retardation, and seizures (AMRS) SLC35A3
Aspartylglucosaminuria AGA
Ataxia-telangiectasia ATM
Ataxia with vitamin E deficiency TTPA
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) SACS
Bardet-Biedl syndrome BBS1, BBS2, BBS10
Beta-hemoglobinopathies, includes sickle cell disease and beta-thalassemias HBB
Beta-ketothiolase deficiency ACAT1
Beta-mannosidosis MANBA
Bloom syndrome BLM
Canavan disease ASPA
Carbamoyl phosphate synthetase I deficiency CPS1
Carnitine-acylcarnitine translocase deficiency SLC25A20
Carnitine palmitoyltransferase II deficiency CPT2
Cartilage-hair hypoplasia RMRP
Cerebral creatine deficiency syndromes GAMT
Citrullinemia ASS1
Cohen syndrome VPS13B
Congenital amegakaryocytic thrombocytopenia MPL
Congenital disorders of glycosylation PMM2
Cystic fibrosis CFTR
Cystinosis CTNS
D-bifunctional protein deficiency HSD17B4
Dihydrolipoamide dehydrogenase deficiency DLD
Dihydropyrimidine dehydrogenase deficiency DPYD
Dystrophinopathies, including Duchenne and Becker muscular dystrophy and X-linked cardiomyopathy DMD
Ehlers Danlos syndrome, ADAMTS2-related ADAMTS2
Ethylmalonic encephalopathy ETHE1
Familial dysautonomia ELP1
Familial hyperinsulinism ABCC8
Familial Mediterranean fever MEFV
Fanconi anemia FANCC
Fragile X syndrome FMR1
Fucosidosis FUCA1
Galactosemia GALT
Galactosialidosis CTSA
Gaucher disease GBA1
Glutaric acidemia type I GCDH
Glutathione synthetase deficiency GSS
Glycine encephalopathy AMT, GLDC
Glycogen storage disease type I G6PC1, SLC37A4
Glycogen storage disease type III AGL
GM1 gangliosidosis and mucopolysaccharidosis type IVB GLB1
GRACILE syndrome BCS1L
Hereditary fructose Intolerance ALDOB
HMG-CoA lyase deficiency HMGCL
Holocarboxylase synthetase deficiency HLCS
Homocystinuria CBS
Hypophosphatasia ALPL
Joubert syndrome and related disorders, including Meckel-Gruber syndrome TMEM216
Junctional epidermolysis bullosa LAMA3, LAMB3, LAMC2
Krabbe disease GALC
Leigh syndrome FOXRED1, LRPPRC, NDUFAF2, NDUFS4, NDUFS7, NDUFV1, SURF1
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency HADHA
Maple syrup urine disease BCKDHA, BCKDHB
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency ACADM
Metachromatic leukodystrophy ARSA
Methylmalonic acidemia MMAA, MMAB, MMUT
Methylmalonic acidemia with homocystinuria MMACHC
Mucolipidosis type II and III GNPTAB
Mucolipidosis type IV MCOLN1
Mucopolysaccharidosis type I IDUA
Mucopolysaccharidosis type II IDS
Mucopolysaccharidosis type III GNS, HGSNAT, NAGLU, SGSH
Mucopolysaccharidosis type IVA GALNS
Mucopolysaccharidosis type VI ARSB
Mucopolysaccharidosis type VII GUSB
Multiple sulfatase deficiency SUMF1
Nemaline myopathy NEB
Nephrotic syndrome NPHS1, NPHS2
Neuronal ceroid-lipofuscinosis CLN3, CLN5, CLN8, PPT1, TPP1
Niemann-Pick disease type C NPC1, NPC2
Niemann-Pick disease types A and B SMPD1
Nijmegen breakage syndrome NBN
Ornithine transcarbamylase deficiency OTC
Phenylalanine hydroxylase deficiency, includes phenylketonuria (PKU) PAH
Phosphoglycerate dehydrogenase deficiency PHGDH
Polycystic kidney disease, autosomal recessive PKHD1
Pompe disease GAA
Primary hyperoxaluria AGXT, GRHPR
Propionic acidemia PCCA, PCCB
Pyruvate dehydrogenase deficiency PDHA1
Retinitis pigmentosa DHDDS
Rhizomelic chondrodysplasia punctata PEX7
Sandhoff disease HEXB
Severe combined Immunodeficiency (SCID), X-linked IL2RG
Sialic acid storage disorders SLC17A5
Sialidosis NEU1
Sjogren-Larsson syndrome ALDH3A2
Smith-Lemli-Opitz syndrome DHCR7
Spinal muscular atrophy SMN1
Sulfate transporter-related osteochondrodysplasias, includes achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia SLC26A2
Systemic primary carnitine deficiency SLC22A5
Tay-Sachs disease HEXA
Tyrosinemia type I FAH
Usher syndrome (hearing loss and retinitis pigmentosa) CLRN1, PCDH15
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency ACADVL
Walker-Warburg syndrome and other FKTN related dystrophies FKTN
Wilson disease ATP7B
Xeroderma pigmentosum ERCC5, XPA, XPC
Zellweger spectrum disorder/ peroxisome biogenesis disorder PEX1, PEX2, PEX6, PEX10, PEX12, PEX26
No Results Found.
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