Complete Gene List

GeneMethodologyCondition/Test
ABCA4Sanger Sequencing Stargardt
ACADMSanger Sequencing Medium chain acyl-CoA dehydrogenase deficiency
ACADSSanger Sequencing Short chain acyl-CoA dehydrogenase deficiency
AGPSNGSSkeletal Dysplasia
ALDOBSanger SequencingHereditary fructose intolerance
ALPLNGSSkeletal Dysplasia
ASPASanger SequencingCanavan disease
BMP1NGSOsteogenesis Imperfecta
BRAFNGSNoonan syndrome/RASopathies
CBL NGSNoonan syndrome/RASopathies
CFTRSanger SequencingCystic fibrosis
COL11A1NGSSkeletal Dysplasia
COL1A1NGS;Deletion/duplication Osteogenesis Imperfecta
COL1A2NGS;Deletion/duplication Osteogenesis Imperfect
COL2A1NGSSkeletal Dysplasia
CPT2Sanger SequencingCarnitine palmitoyltransferase II deficiency
CRTAPNGSOsteogenesis Imperfecta
DHCR7Sanger Sequencing Smith-Lemli-Opitz syndrome
DYNC2H1 NGSSkeletal Dysplasia
ESCO2NGSSkeletal Dysplasia
EVC NGSSkeletal Dysplasia
EVC2NGSSkeletal Dysplasia
FAH Sanger SequencingTyrosinemia, type 1
FGFR1NGSSkeletal Dysplasia
FGFR2NGSSkeletal Dysplasia
FGFR3NGSSkeletal Dysplasia
FKBP10NGSOsteogenesis Imperfecta
FKTNSanger SequencingFKTN-related disorders, including Walker-Warburg syndrome
FMR1Repeat analysis; Methylation testingFragile X
G6PCSanger SequencingGlycogen storage disease type 1a
GALTSanger SequencingGalactosemia
GBA Sanger SequencingGaucher Disease
GJB2Sanger Sequencing; Deletion/DuplicationGJB2-related DFNB1 nonsydromic hearing loss
HBA1/HBA2Deletion/duplicationAlpha thalassemia
HBBSanger SequencingBeta Thalassemia and other beta-globinopathies
HEXASanger SequencingTay-Sachs disease
HRASNGSNoonan syndrome/RASopathies
IFITM5NGSOsteogenesis Imperfecta
IFT80NGSSkeletal Dysplasia
INPPL1NGSSkeletal Dysplasia
KRASNGSNoonan syndrome/RASopathies
MAP2K1NGSNoonan syndrome/RASopathies
MAP2K2NGSNoonan syndrome/RASopathies
MEFVSanger SequencingFamilial Mediterranean fever
NRASNGSNoonan syndrome/RASopathies
P3H1 (LEPRE1)NGSOsteogenesis Imperfecta
PAM16NGSSkeletal Dysplasia
PEX7NGSSkeletal Dysplasia
PLOD2NGSOsteogenesis Imperfecta
PMM2Sanger SequencingHereditary disorder of glycosylation type 1a
POLGSanger SequencingAtaxia neuropathy spectrum disorders
POMT2 Sanger Sequencing POMT2-related disorders, including Walker-Warburg syndrome
PPIBNGSOsteogenesis Imperfecta
PTPN11NGSNoonan syndrome/RASopathies
RAF1NGSNoonan syndrome/RASopathies
RIT1NGSNoonan syndrome/RASopathies
ROR2NGSSkeletal Dysplasia
SERPINF1NGSOsteogenesis Imperfecta
SERPINH1NGSOsteogenesis Imperfecta
SHOC2NGSNoonan syndrome/RASopathies
SLC26A2 (DTDST)NGSSkeletal Dysplasia
SLC26A4 Sanger SequencingPendred Syndrome
SMN1Sanger Sequencing; Deletion/DuplicationSpinal Muscular Atrophy
SMPD1Sanger Sequencing Niemann-Pick Disease
SOS1NGSNoonan syndrome/RASopathies
SOX9NGSSkeletal Dysplasia
SP7 NGSOsteogenesis Imperfecta
TMEM38B NGSOsteogenesis Imperfecta
TWIST1NGS Skeletal Dysplasia
WNT1NGSOsteogenesis Imperfecta