Medical Genetics Test Details
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|Mitochondrial DNA Common Mutations and Deletions Screen|
|Test Information:||***EFFECTIVE 01/03/2014, THIS TEST WILL BE DISCONTINUED. AS AN ALTERNATIVE, WE RECOMMEND ORDERING TEST CODE 2010 - Advanced mtDNA Point Mutations and Deletions by Massively Parallel Sequencing (BCM-MitomeNGS). PLEASE SEE (#2010) or (Discontinuation of Test Codes 3000, 3005 and 3006) FOR MORE INFORMATION.***
Confirmation of Clinical Diagnosis, Carrier Testing
- Cardiomyopathy: 8363G>A|
- CPEO (Chronic Progressive External Ophthalmoplegia: Large Deletions
- Deafness and/or Diabetes: 3243A>G
- Kearns-Sayre Syndrome: Large Deletions
- Leigh/Leigh-like/MELAS: 13513G>A, 13514A>G
- LHON (Leber Hereditary Optic Neuropathy): 11778G>A, 3460G>A, 14459G>A, 14484T>C
- MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like episodes): 3243A>G, 3271T>C
- MERRF (Myoclonic Epilepsy and Ragged Red Fibers): 8344A>G
- Mitochondrial DNA Multiple Deletion Syndrome: Large Deletions
- NARP (Neuropathy, Ataxia, Retinitis Pigmentosa), Leigh syndrome: 8993T>G, 8993T>C
- Pearson Marrow/Pancrease Syndrome: Large Deletions
Heteroplasmic point mutations as low as 1% can be detected. Single deletions of larger than 500 bp at greater than 10% heteroplasmy can be detected by Southern analysis.
Quantitation is available for patient's who are ASO positive by real time ARMS quantitative PCR test (#3005).
GeneReviews available for (Leber Hereditary Optic Neuropathy (LHON)), (MELAS), (MERRF), (mtDNA Deletion Syndromes), and (NARP),
|Methodology:||Point mutations are detected by Allele-Specific Oligonucleotide (ASO) hybridization. Large deletions are detected by Southern analysis.|
|Sample & Shipping Information|
|Requirements:||Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).|
|Shipping Conditions:||Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
|Specimen Type:||Skeletal Muscle (Preferred)|
|Requirements:||50 mg for muscle DNA analysis, 150mg for muscle ETC analysis, >200mg if additional tests are requested.|
|Shipping Conditions:||Skeletal Muscle should be flash frozen in liquid nitrogen at collection with no media added, stored at -80C, and shipped by overnight courier on 3-5 lbs of dry ice.
|Requirements:||50 mg of heart, brain, liver, kidney or fibroblast cultures for DNA analysis.|
|Shipping Conditions:||Tissues such as liver and kidney should be flash frozen in liquid nitrogen at collection with no media added, stored at -80C, and shipped by overnight courier on 3-5 lbs of dry ice.
|Turn Around Time:||21 days|
|List Price:||*For Insurance or Institutional Prices, please call.|