Creatine transport deficiency: SLC6A8 gene – familial case
Speciality(ies) / Other Speciality(ies)
Test / Mutation List
2 to 4 weeks
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.