Mitochondrial Genome Sequencing & Deletion Testing

Test details
Medical Speciality
  • Mitochondrial Disorders
  • Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO)
  • Chronic Progressive External Ophthalmoplegia (CPEO)
  • Complex I Deficiency
  • Complex III Deficiency
  • Complex IV(Cytochrome C Oxidase) Deficiency
  • Complex V (ATP Synthesis) Deficiency
  • Diabetes and Hearing Loss
  • Kearns-Sayre Syndrome (KSS)
  • Lactic acidosis
  • Lebers Hereditary Optic Neuropathy (LHON)
  • Maternally Inherited Deafness or Aminoglycoside-Induced Deafness
  • Maternally Inherited Diabetes and Deafness (MIDD)
  • Maternally Inherited Diabetes Mellitus (MIDM)
  • Methylmalonic Aciduria and Homocystinuria, cblJ Type
  • Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
  • Mitochondrial Myopathy (MM)
  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
  • Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
  • Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP)
  • Optic Atrophy
  • Oxidative Phosphorylation (OXPHOS) Deficiency
  • Pearson Syndrome
  • Primary Coenzyme Q10 Deficiency
  • Sensorineural Hearing Loss (SNHL)
Clinical Utility
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
Test Code GD554
Turn Around Time 4 weeks
Collection Instructions BIB: Collect specimen place in formalin jar write patient name and site on jar