In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
Methylglutaconic Aciduria Nuclear Gene Panel
FORMS AND DOCUMENTS
- ATP5E, ATPAF2 (ATP12), AUH, DNAJC19, OPA3, POLG, SERAC1, SUCLA2, TAZ, TMEM70
- 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
- Test Code:
- Turnaround Time:
- 8 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- 81406x2, 81479x8
- New York Approved:
- ABN Required:
- 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
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- 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.
- Ogilvie, I., Kennaway, N. G., and Shoubridge, E. A. (2005) J Clin Invest 115, 2784-92.
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- 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.