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.)
- Next-Gen Sequencing
Ordering
704
3-4 weeks
Tissue Biopsy (>50 mg Muscle or Liver-Flash Frozen)
2-5 mL Blood - Lavender Top Tube | Oral Rinse (30-40 mL) | Buccal Swabs
Billing
81401x2, 81465x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
References
- Longo, N. (2003) Neurol Clin N Am 21:817-831.
- Majamaa et al., (1998) Am J Hum Genet 63:447-454.
- Goto et al., (1991) Biochim Biophys Acta 1097:238-40.
- Mackey et al., (1996) Am J Hum Genet 59:481-485.
- 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
- Jeppesen TD,et al. (2003) Ann Neurol 54(1):86-92.
- Moraes et al., (1989) N Engl J Med 18:1293-9.
- Chinault et al., Genet Med (2009)11:518-526
- Uusimaa et al., (2000) Pediatrics 105:598-603
- Remes et al., (2005) Neurology 64:976-981
- Darin et al., (2001) Ann Neurol 49:377-383
- Wong, L. and Senadheera, D. (1997) Clin Chem 43:1857-1861
- Jaksch et al., (2001) J Med Genet 38:665-673