Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

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 zebras@genedx.com.

Comprehensive Mitochondrial Nuclear Gene Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
AARS2, ABCB7, ACAD9, ACO2, ADCK3 (CABC1; COQ8), AFG3L2, AGK, AIFM1, ALAS2, ALDH1B1, APTX, ATP5E, ATPAF2 (ATP12), AUH, BCS1L, BOLA3, C10ORF2, C12ORF65, C20ORF7, C8ORF38, CISD2, COA5 (C2ORF64), COQ2, COQ6, COQ9, COX10, COX14 (C12ORF62), COX15, COX20 (FAM36A), COX6B1, DARS2, DGUOK, DLAT, DLD, DNAJC19, DNM1L, EARS2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FH, FOXRED1, G6PC, GFER, GFM1 (EFG1), GFM2, GYS2, HARS2, HLCS, HSPD1, ISCU, LARS, LIAS, LRPPRC, MARS2, MFN2, MPC1 (BRP44L), MPV17, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF7 (C2ORF56), NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, OPA3, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PNPT1, POLG, POLG2, PUS1, RARS2, REEP1 (C2ORF23), RMND1, RRM2B, SARS2, SCO1, SCO2, SDHAF1, SERAC1, SLC19A3, SLC25A3 (PHC), SLC25A4, SLC37A4, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRQ, WFS1, YARS2
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:
573
Turnaround Time:
8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81440x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 276.2: Acidosis Acidosis
  • 250: Diabetes mellitus
  • 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
  • 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)
  • 425.1: Hypertrophic obstructive cardiomyopathy, Hypertrophic subaortic stenosis (idiopathic)
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  2. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  3. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  4. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  5. Bennett, S. (2004) Pharmacogenomics 5, 433-8.
  6. 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.

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