mitochondrially encoded genomic sequence panel

Genetics

• implicated genes
  • BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, TYMP

Indications

• evaluation of mitochondrial disorders

More general terms

• genome sequencing

More specific terms

• mitochondrially encoded genomic sequence panel + heteroplasmy