Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

Methylglutaconic Aciduria Nuclear Gene Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ATP5E, ATPAF2 (ATP12), AUH, DNAJC19, OPA3, POLG, SERAC1, SUCLA2, TAZ, TMEM70
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:

ORDERING

Test Code:
578
Turnaround Time:
8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x2, 88271x50, 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)
  • 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)
  • 389.1: Sensorineural hearing loss, Perceptive hearing loss or deafness
  • 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
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Gunay-Aygun, M. (2005) Mol Genet Metab 84, 1-3.
  2. Gibson, K. M., Wappner, R. S., Jooste, S., Erasmus, E., Mienie, L. J., Gerlo, E., Desprechins, B., and De Meirleir, L. (1998) J Inherit Metab Dis 21, 631-8.
  3. Ogilvie, I., Kennaway, N. G., and Shoubridge, E. A. (2005) J Clin Invest 115, 2784-92.
  4. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16]
  5. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  6. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  7. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  8. Bennett, S. (2004) Pharmacogenomics 5, 433-8.
  9. Gibson, K. M., Bennett, M. J., Mize, C. E., Jakobs, C., Rotig, A., Munnich, A., Lichter-Konecki, U., and Trefz, F. K. (1992) J Pediatr 121, 940-2.

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