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 email@example.com.
Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
FORMS AND DOCUMENTS
- 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
- Acyl-CoA dehydrogenase 9 (ACAD9) deficiency
- Ataxia with Oculomotor Apraxia 1(AOA1)
- Barth syndrome
- Bjornstad Syndrome
- Fructose-1,6-Bisphosphatase Deficiency
- Glycogen Storage Disease 1a
- Glycogen Storage Disease Ib
- Glycogen Storage Disease Ic
- Glycogen Storage Disease, Type 0
- Gracile Syndrome
- Lactic acidosis
- Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA)
- Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
- Mitochondrial Phosphate Carrier Deficiency
- Pyruvate Carrier Deficiency
- Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency
- Pyruvate dehydrogenase complex deficiency
- Sideroblastic Anemia
- Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
- 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:
- 81405x3, 81406x5
- New York Approved:
- ABN Required:
- 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)
- 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.
- Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
- Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
- van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
- Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
- Bennett, S. (2004) Pharmacogenomics 5, 433-8.