Leukodystrophies: gene panel
Speciality(ies) / Other Speciality(ies)
Metabolic Diseases
Neurology
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
92
Test / Mutation List
ABCD1, ACADS, ACO2, ACOX1, ADAR, ADGRG1, ADSL, ALDH3A2, AP4B1, ARSA, ASPA, B3GALNT2, COX7B, CSF1R, CYP27A1, DARS, DARS2, DDOST, DHFR, DNM1L EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ERCC6, FA2H, FAM126A, FKRP, FKTN, FOLR1, FOXG1, FUCA1, GALC, GBE1, GFAP, GFM1, GJA1, GJB1, GJC2, GLUL, HEPACAM, HSD17B4, HSPD1, HTRA1, IDUA, ISCA2, KCNT1, L2HGDH, LAMA2, LARGE1, LMNB1, MARS2, MCOLN1, MEF2C, MLC1, MLYCD, MTTP, MUT, NOTCH3, PAH, PEX7, PHGDH, PLP1, POLG, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PTEN, PSAP, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SLC16A2, SLC17A5, SLC25A12, SLC33A1, SOX10, STXBP1, SUMF1, TREX1, TUBB4A, TYMP, UBE2A
TAT
2 to 3 months
Sample Type
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.