Overlapping idications

Examination of the mitochondrial genome using one or more of the following indications should be considered first where possible based on clinical or biochemical/enzyme results: a. R42 Leber hereditary optic neuropathy b. R64 MELAS or MIDD c. R350 MERRF syndrome d. R351 NARP syndrome or maternally inherited Leigh syndrome e. R317 Mitochondrial liver disease, including transient infantile liver failure f. R299 Possible mitochondrial disorder - mitochondrial DNA rearrangement testing g. R300 Possible mitochondrial disorder - whole mitochondrial genome sequencing h. R301 Possible mitochondrial disorder - mitochondrial DNA depletion testing • Targeted examination of nuclear genes should be considered first where possible based on clinical or biochemical/enzyme results: i. R315 POLG-related disorder j. R352 Mitochondrial DNA maintenance disorder k. R353 Mitochondrial disorder with complex I deficiency l. R354 Mitochondrial disorder with complex II deficiency m. R355 Mitochondrial disorder with complex III deficiency n. R356 Mitochondrial disorder with complex IV deficiency o. R356 Mitochondrial disorder with complex V deficiency p. R316 Pyruvate dehydrogenase (PDH) deficiency Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.