Medical Genetics Test Details
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|Advanced mtDNA Point Mutations and Deletions by Massively Parallel Sequencing (BCM-MitomeNGSSM)|
|Test Information:||This test includes 36 common mitochondrial DNA mutations in 17 mitochondrial genes (see below).
This test includes the analyzation of the following mutations by gene:|
MT-RNR1: m.1494T>C and m.1555A>G
MT-TL1: m.3243A>G, m.3251A>G, m.3252A>G, and m.3271T>C
MT-TI: m.4269A>G, m.4274T>C and m.4300A>G
MT-CO1/MT-TS1 precursor: m.7445A>C
MT-TK: m.8344A>G, m.8356T>C, and m.8363G>A
MT-ATP6: m.8993T>C, m.8993T>G, m.9176T>C, m.9176T>G, m.9185T>C
MT-ND3: m.10158T>G, m.10191T>C, m.10197G>A
MT-ND4: m.11777C>A and m.11778G>A
MT-TL2: m.12315G>A and m.12320A>G
MT-ND5: m.13513G>A and m.13514A>G
MT-ND6: m.14459G>A and m.14484T>C
MT-TE: m.14674T>C and m.14709T>C
36 point mutations in 17 mitochondrial genes are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation sequence technology. Heteroplasmic point mutations as low as 1.5% can be detected. These mutations have been associated with Cardiomyopathy, CPEO, Deafness and/or Diabetes, Kearns-Sayre Syndrome, Leigh/Leigh-like, LHON, MELAS, MERRF, Mitochondrial DNA Multiple Deletions Syndrome, NARP, Pearson Marrow/Pancreas Syndrome.
In general, this test can detect mtDNA mutations in at least 85% patients with primary mtDNA defect.
GeneReviews available for (Leber Hereditary Optic Neuropathy (LHON)), (MELAS), (MERRF), (mtDNA Deletion Syndromes), and (NARP).
|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:||28 days|
|List Price:||*For Insurance or Institutional Prices, please call.|