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Mitochondrial DNA depletion syndrome
Tests Available
mtDNA Depletion/Over-replication Analysis
FORMS AND DOCUMENTS
TEST DETAILS
- Clinical Utility:
-
- Confirmation of mtDNA depletion/over-replication in the affected tissue
- To facilitate selection of nuclear genes for sequence analysis
- Unexplained mild clinical manifestation in patients with an unequivocal mitochondrial tRNA
- mutation or large-scale deletion
- Lab Method:
- RT-ARMS qPCR
ORDERING
- Test Code:
- 393
- Turnaround Time:
- 3-4 weeks
- Preferred Specimen:
- Tissue Biopsy (>50 mg Muscle or Liver-Flash Frozen)
BILLING
- CPT Codes:
- 81479x1
- Billing Information:
- View Neurology Billing Policy
- ICD Codes:
-
- 277.87: Disorders of mitochondrial metabolism, Kearns-Sayre syndrome, Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome), Mitochondrial Neurogastrointestinal Encephalopathy syndrome (MNGIE), Myoclonus with Epilepsy and with Ragged Red Fibers (MERRF syndrome), Neuropathy, Ataxia and Retinitis Pigmentosa (NARP syndrome)
- 276.2: Acidosis Acidosis
- 349.9: Unspecified disorders of nervous system, Disorder of nervous system (central) NOS
REFERENCES
- Bai, R. and Wong, J. (2005) J Mol Diagn 7:613-22
- Wong et al., (2003) J Med Genet 40:e125
- Moslemi et al., (1998) Neuromuscul Disord 8:345-349
- Tokunaga et al., (1993) Ann Neurol 33:275-280
