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Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ACAD9, ADCK3 (CABC1; COQ8), AGK, APTX, ATP5E, ATPAF2 (ATP12), BCS1L, BOLA3, C20ORF7, C8ORF38, COQ2, COQ9, COX10, COX14 (C12ORF62), COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBP1, FH, G6PC, GFM1 (EFG1), GYS2, HLCS, ISCU, LIAS, LRPPRC, MPC1 (BRP44L), MRPS16, MRPS22, MTO1, NDUFA11, NDUFA9, NDUFAF1, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NFU1, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, PUS1, RMND1, RRM2B, SCO2, SERAC1, SLC25A3 (PHC), SLC25A4, SLC37A4, SUCLA2, SUCLG1, SURF1, TAZ, TIMM44, TK2, TMEM70, TPK1, TRMU, TSFM, TUFM, TYMP, UQCRB, 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:

ORDERING

Test Code:
576
Turnaround Time:
8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81405x3, 81406x5
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 250: Diabetes mellitus
  • 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
  • 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)
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. 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.
  2. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  3. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  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.

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