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Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ACO2, AUH, C10ORF2, C12ORF65, CISD2, MFN2, MTPAP, NDUFS1, OPA1, OPA3, POLG, POLG2, RRM2B, SLC19A3, SLC25A4, SPG7, TIMM8A, TK2, TMEM126A, TYMP, WFS1
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:
577
Turnaround Time:
9-11 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81404x1, 81407x1, 88271x35, 88291x1, 84311x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 276.2: Acidosis Acidosis
  • 425.1: Hypertrophic obstructive cardiomyopathy, Hypertrophic subaortic stenosis (idiopathic)
  • 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
  • 389.1: Sensorineural hearing loss, Perceptive hearing loss or deafness
  • 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)
  • 250: Diabetes mellitus
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Yu-Wai-Man, P., Griffiths, P. G., and Chinnery, P. F. (2011) Prog Retin Eye Res 30, 81-114.
  2. 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.
  3. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  4. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  5. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  6. Bennett, S. (2004) Pharmacogenomics 5, 433-8.
  7. Fratter, C., Raman, P., Alston, C. L., Blakely, E. L., Craig, K., Smith, C., Evans, J., Seller, A., Czermin, B., Hanna, M. G., Poulton, J., Brierley, C., Staunton, T. G., Turnpenny, P. D., Schaefer, A. M., Chinnery, P. F., Horvath, R., Turnbull, D. M., Gorman, G. S., and Taylor, R. W. (2011) Neurology 76, 2032-4.
  8. Milone, M., and Massie, R. (2010) Neurologist 16, 84-91.
  9. Stewart, J. D., Hudson, G., Yu-Wai-Man, P., Blakeley, E. L., He, L., Horvath, R., Maddison, P., Wright, A., Griffiths, P. G., Turnbull, D. M., Taylor, R. W., and Chinnery, P. F. (2008) Neurology 71, 1829-31.

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