Test Menu
Condition
Test Name
Newborn screening gene panel
Inclusive Genes
ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACSF3, ADA, AHCY, AK2, ARG1, ASL, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CD320, CD3D, CD3E, CFTR, CIITA, CPS1, CPT1A, CPT2, CYP11B1, CYP17A1, CYP21A2, DBT, DCLRE1C, DLD, DNAJC19, DUOX2, ETFA, ETFB, ETFDH, FAH, G6PD, GAA, GALC, GALE, GALK1, GALT, GBA, GCDH, GCH1, GJB2, GJB3, GJB6, GLA, GNMT, GSS, HADH, HADHA, HADHB, HBA1, HBB, HCFC1, HLCS, HMGCL, HPD, HSD17B10, HSD3B2, IDUA, IL2, IL21R, IL2RG, IL7R, IVD, JAK3, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, NADK2, NGLY1, NHEJ1, NKX2-5,NPC1, NPC2, OAT, OPA3, OTC, PAH, PAX8, PCBD1, PCCA, PCCB, PNP, PSAP, PTPRC, PTS, QDPR, RAG1, RAG2, RFX5, RFXANK, RFXAP, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC5A5, SMPD1, STAR, SUCLA2, SUCLG1, TAP1, TAPBP, TAT, TG, THRA, TPO, TSHB, TSHR
Specimen Type
Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid/ Dried Blood Spots (FTA Cards)/ Product of Conception (POC)