Progressive external ophthalmoplegia: gene panel
Speciality(ies) / Other Speciality(ies)
Neurology
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
16
Test / Mutation List
DGUOK, DNA2, MGME1, MFN2, MPV17, OPA1, POLG, POLG2, RNASEH1, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TWNK, TYMP
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.