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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:
Exon Array CGH|Next-gen Sequencing

ORDERING

Test Code:
578
Turnaround Time:
9-11 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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