Feedback
Mitochondrial Disorders (mtDNA) Sequencing and Deletion Analysis by NGS
3001965
Ordering Recommendation

Assess for sequence variants in the mitochondrial genome (mtDNA) causing mitochondrial disorders, especially for individuals with clinical symptoms characteristic of a specific disorder, such as leber hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), and neurogenic weakness with ataxia and retinitis pigmentosa (NARP).

Mnemonic
MTDNA NGS
Methodology
Next Generation Sequencing
Performed
Varies
Reported
30-33 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (K2 or K3EDTA). Also acceptable Buccal Swabs. 
Specimen Preparation
Transport 5 mL whole blood (Min: 2 mL) or 2 buccal swabs. (Min: 2 swabs) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data


Note
Hotline History
View Hotline History
Components
Component Test Code*Component Chart NameLOINC
2010873Ordering Physician Name67102-4
2010874Ordering Physician Phone Number67714-6
3001966EER Mito Disorders, mtDNA, Seq/Del
3001967Mito Disorders, mtDNA, Seq/Del
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Aminoglycoside-Induced Deafness
  • cblJ Type
  • Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO)
  • Chronic Progressive External Ophthalmoplegia (CPEO)
  • Coenzyme Q10 Deficiency
  • 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
  • Maternally Inherited Diabetes Mellitus (MIDM)
  • Maternally Inherited Diabetes/Deafness (MIDD)
  • Methylmalonic Aciduria and Homocystinuria
  • Mitochondrial Encephalomyopathy (Lactic Acidosis and Stroke-Like Episodes) (MELAS)
  • Mitochondrial Myopathy (MM)
  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
  • Myoclonic Epilepsy Ragged-Red Fibers (MERRF)
  • Neurogenic Weakness Ataxia and Retinitis Pigmentosa (NARP)
  • Optic Atrophy
  • Oxidative Phosphorylation (OXPHOS) Deficiency
  • Pearson Syndrome
  • Sensorineural Hearing Loss (SNHL)

Performed at GeneDx