Mitochondrial Disorders (mtDNA) Sequencing and Deletion Analysis by NGS

3001965
copy
 

Copy Utility


emailprint

Icon

Patient History For Molecular Genetic Testing
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.
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)
Test is not performed at ARUP; separate specimens must be submitted when multiple tests are ordered.

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data



No compliance statements are in use for this test.

Note
Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
11/18/2019
X
N/A
CPT Codes

81460; 81465

Are you an ARUP Client? Click here for your pricing.
Components
Component Test Code* Component Chart Name LOINC
2010873 Ordering Physician Name 67102-4
2010874 Ordering Physician Phone Number 67714-6
3001966 EER Mito Disorders, mtDNA, Seq/Del 11526-1
3001967 Mito Disorders, mtDNA, Seq/Del 40995-3
* 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)
Mitochondrial Disorders (mtDNA) Sequencing and Deletion Analysis by NGS

GeneDx