Forms and Documents
Test Details
- Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO)
- Chronic Progressive External Ophthalmoplegia (CPEO)
- Diabetes and Hearing Loss
- Kearns-Sayre Syndrome (KSS)
- Lactic acidosis
- Lebers Hereditary Optic Neuropathy (LHON)
- Maternally Inherited Deafness or Aminoglycoside-Induced Deafness
- Maternally Inherited Diabetes and Deafness (MIDD)
- Maternally Inherited Diabetes Mellitus (MIDM)
- Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
- Mitochondrial Myopathy (MM)
- Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
- Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
- Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP)
- Pearson Syndrome
- Sensorineural Hearing Loss (SNHL)
- Molecular confirmation of a clinical diagnosis
- Testing of patients suspected of having a mitochondrial disorder
65 confirmed disease-causing mtDNA point variants (see list in Test Info Sheet) and large scale deletion analysis of the mitochondrial genome (including LHON [20 mutations], MELAS [16 mutations], LS/NARP [22 mutations], MIHL/MIDM [10 mutations)] MERRF [6 mutations], KSS, CPEO, Pearson syndrome, etc.)
Ordering
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
Billing
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
References
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- Taylor et al., (2003) J Am Coll Cardiol 41:1786-96.
- DiMauro, S. Gene Reviews (2005) MERRF.
- Thorburn, D. Gene Reviews (2006) Mitochondrial DNA-Associated Leigh Syndrome and NARP.
- DiMauro, S. Gene Reviews (2005) MELAS.
- Yu-Wai-Man, P and Chinnery, P. Gene Reviews (2008) Leber Hereditary Optic Neuropathy.
- Macmillan et al., (1998) Neurology 50:417-22.
- Crispim et al., (2008) Arq Bras Endocrinol Metab 52:1228-1235.
- Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187.
- Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
- Bennett S.(2004) Pharmacogenomics 5:433-8
- MITOMAP: A Human Mitochondrial Genome Database. http://www.mitomap.org, 2008.
- Achilli et al., (2012) PLoS One 7:e42242.
- Pulkes et al., (1999) Ann Neurol 46:916-9.
- DiMaruo, S. and Hirano, M. (Updated [May 3, 2011]). Mitochondrial DNA Deletion Syndromes In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2012. Available at http://w
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- Darin et al., (2001) Ann Neurol 49:377-383
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- Jaksch et al., (2001) J Med Genet 38:665-673