Homocystinuria due to remethylation deficiency: MTHFR gene – index case
Speciality(ies) / Other Speciality(ies)
Metabolic Diseases
Test / Mutation List
MTHFR
TAT
4 to 6 weeks
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.