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MtDNA Depletion/Multiple Deletions Nuclear Gene Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
AGK, APTX, C10ORF2, DGUOK, MFN2, MPV17, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TYMP
Disorders:
Clinical Utility:
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
Lab Method:
Exon Array CGH, Next-gen Sequencing

ORDERING

Test Code:
594
Turnaround Time:
10-11 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81404x2, 81405x1, 81406x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 389.10: Hearing loss, sensorineural
  • 330.8: Other specified cerebral degenerations in childhood, Alpers' disease or gray-matter degeneration, Infantile necrotizing encephalomyelopathy, Leigh's disease, Subacute necrotizing, encephalopathy or encephalomyelopathy
  • 250: Diabetes mellitus
  • 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
  • 425.1: Hypertrophic obstructive cardiomyopathy, Hypertrophic subaortic stenosis (idiopathic)
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Stewart et al., (2008) Neurology 71:1829-31.
  2. Milone, M., and Massie, R. (2010) Neurologist 16:84-91.
  3. Fratter et al., (2011) Neurology 76:2032-4.
  4. Spinazzola et al., (2009) J Inherit Metab Dis 32:143-58.
  5. Bennett, S. (2004) Pharmacogenomics 5, 433-8.
  6. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  7. Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
  8. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  9. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.

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