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Mitochondrial DNA Depletion/Multiple Deletion
Tests Available
- Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
- Comprehensive Mitochondrial Nuclear Gene Panel
- Oxidative Phosphorylation Deficiency Nuclear Gene Panel
- MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
FORMS AND DOCUMENTS
TEST DETAILS
- Genes:
- AARS2, ABCB7, ACAD9, ADCK3 (CABC1; COQ8), AIFM1, ALAS2, APTX, ATP5E, ATPAF2 (ATP12), AUH, BCS1L, C10ORF2, C12ORF65, C20ORF7, C8ORF38, CISD2, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FASTKD2, FBP1, FH, FOXRED1, G6PC, GFER, GFM1 (EFG1), GYS2, ISCU, LRPPRC, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OPA3, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, POLG2, PUS1, RARS2, RRM2B, SARS2, SCO1, SCO2, SDHAF1, SLC25A3 (PHC), SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TIMM8A, TK2, TMEM126A, TMEM70, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRQ, WFS1, YARS2
- 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:
- 615
- Turnaround Time:
- 9-11 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81404x1, 81405x1, 81406x1, 81407x1, 88271x60, 88291x1, 84311x1, 81479x1
- List Price:
- $7,300.00
- 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)
REFERENCES
- 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.
- Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
- Bennett, S. (2004) Pharmacogenomics 5, 433-8.
- 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.
