Mitochondrial disorders

The laboratory provides the following services (R codes relate to the NHS England National Genomic Test Directory).

NHSE funded test referrals should be in accordance with the National Genomic Test Directory for rare disease and meet eligibility criteria: .

Please complete a mitochondrial pre-referral form to accompany samples (see request forms).

Targeted mitochondrial DNA tests (selected as clinically appropriate and reported together on a single report):
- R64 MELAS or MIDD Diagnostic testing - m.3243A>G
- R65 Aminoglycoside exposure posing risk to hearing - m.1555A>G, m.1494C>T, m.1095T>C
- R299 Possible mitochondrial disorder - mitochondrial DNA rearrangement testing
- R350 MERRF syndrome - m.8344A>G
- R351 NARP syndrome or maternally inherited Leigh syndrome - m.8993T>C/G
- R397 Maternally inherited cardiomyopathy - m.4300A>G
R300 Possible mitochondrial disorder - whole mitochondrial genome sequencing
R301 Possible mitochondrial disorder - mitochondrial DNA depletion (muscle or liver tissue/DNA required)
R315 POLG-related disorder
R316 Pyruvate dehydrogenase (PDH) deficiency
R317 Mitochondrial liver disease, including transient infantile liver failure
R352 Mitochondrial DNA maintenance disorder
R353 Mitochondrial disorder with complex I deficiency
R354 Mitochondrial disorder with complex II deficiency
R355 Mitochondrial disorder with complex III deficiency
R356 Mitochondrial disorder with complex IV deficiency
R357 Mitochondrial disorder with complex V deficiency
R63 Possible mitochondrial disorder - nuclear genes
R394 Mitochondrial neurogastrointestinal encephalopathy
R395 Thiamine metabolism dysfunction syndrome 2
R396 Mitochondrial complex V deficiency, TMEM70 type
R42 Leber hereditary optic neuropathy