HMG-CoA lyase deficiency: HMGCL gene
Speciality(ies) / Other Speciality(ies)
NGS, with CNVs analysis
Test / Mutation List
2 to 3 months
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
For other samples types, please contact the laboratory.