Test Menu
Condition
Test Name
Leukodystrophy gene panel[Expedited TAT]
Inclusive Genes
AARS, AARS2, ABCD1, ABCD4, ACAD9, ACOX1, ACP5, ACSF3, ADAR, ADGRG1, ADSL, AGA, AGK, AIMP1, ALDH3A2, ALDH5A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMT, ANO5, AP3B1, ARSA, ARSB, ASPA, ATP13A2, ATP6V0A2, ATP7A, B3GALNT2, B4GALT1, B4GAT1, BCAP31, BCKDHA, BCKDHB, BLOC1S6, BTD, C10orf2, CAD, CAPN3, CARS2, CAV3, CBS, CD27, CD320, CHKB, CLCN2, CLN3, CLN5, CLN6, CLN8, COG1, COG4, COG5, COG6, COG7, COG8, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, CSF1R, CTC1, CTSD, CTSF, CYP27A1, D2HGDH, DAG1, DARS, DARS2, DBT, DCAF17, DCAF8, DDC, DDOST, DES, DGUOK, DLAT, DLD, DMD, DNAJB6, DNAJC5, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMD, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, FA2H, FAM126A, FARS2, FBXL4, FH, FHL1, FKRP, FKTN, FOLR1, FOXRED1, FUCA1, GALC, GALNS, GALT, GAN, GARS, GBE1, GCDH, GCSH, GFAP, GJA1, GJB1, GJC2, GLA, GLB1, GLDC, GM2A, GMPPB, GNPTAB, GNPTG, GNS, GPHN, GRN, GTF2H5, GUSB, HARS, HARS2, HCFC1, HEPACAM, HEXA, HGSNAT, HLCS, HMGCL, HNRNPDL, HSD17B4, HSPD1, HTRA1, HYAL1, IARS2, IDH2, IDS, IDUA, IFIH1, ISPD, ITGA7, ITK, IVD, JAM3, KARS, KCTD7, L2HGDH, LAMA2, LARGE, LARS, LARS2, LIAS, LMBRD1, LMNA, LMNB1, LYST, MAN2B1, MANBA, MARS, MARS2, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MGAT2, MGME1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPLKIP, MPV17, MTHFR, MTR, MTRR, MUT, MYOT, NAGLU, NARS2, NDUFA1, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS8, NDUFV1, NDUFV2, NEU1, NOTCH3, NPC1, NPC2, NUBPL, OCLN, OCRL, OPA1, PABPN1, PAH, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDK3, PDP1, PDX1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGM1, PHGDH, PHYH, PLEC, PLP1, PMM2, POLG, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPT1, PRF1, PRPS1, PSAP, PYCR2, QARS, QDPR, RAB27A, RARS, RARS2, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RPIA, RRM2B, SAMHD1, SARS2, SCP2, SEPN1, SGCA, SGCB, SGCD, SGCG, SH2D1A, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SLC35A1, SLC35A2, SLC35C1, SLC7A7, SMCHD1, SOX10, SPG11, SRD5A3, SSR4, STT3A, STT3B, STX11, STXBP2, SUCLA2, SUCLG1, SUGCT, SUOX, SYNE1, SYNE2, TARS2, TCAP, TK2, TMEM165, TMEM43, TMEM5, TNPO3, TPP1, TRAPPC11, TREM2, TREX1, TRIM32, TTN, TUBB4A, TYMP, TYROBP, UNC13D, VARS2, XIAP, YARS, YARS2, ZFYVE26
Specimen Type
Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid/ Dried Blood Spots (FTA Cards)/ Product of Conception (POC)