Medical Genetics Test Details

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Comprehensive mtDNA Analysis by Massively Parallel Sequencing (MitoNGS^SM)
Test Information:	Confirmation of Clinical Diagnosis. Evaluation of the entire mitochondrial genome for point mutations and deletions.
Test Details
Test Code:	2055
Special Notes:	Unlike traditional direct sequence analysis, massively parallel sequencing provides thousands of reads for each nucleotide position of the entire 16,569 bp mitochondrial genome. The high-throughput sequence data generated by massively parallel sequencing enables a more accurate quantification of low-level mtDNA heteroplasmy sequence changes and detection of deletions with breakpoints. The detection threshold of massively parallel sequencing analysis for heteroplasmic mitochondrial DNA point mutations is approximately 1.5% for the Illumina HiSeq 2000 platform. If targeted sequencing analysis is required for matrilineal family members, please order test code #3056 (targeted Sanger sequence, no heteroplasmy quantification), or test code #2056 (targeted massively parallel sequencing with heteroplasmy quantification). The following subsets of MitoNGS can be ordered separately: - Advanced mtDNA Point Mutations and Deletions by Massively Parallel Sequencing (BCM-MitomeNGSSM) (#2010) - Mitochondrial Nonsyndromic Hearing Loss and Deafness Mutation Panel (#3030)
Technical Information
Methodology:	Next Generation (NextGen) Sequence Analysis using an Illumina HiSeq 2000 platform

Sample & Shipping Information
Test Requisition:	Mitochondrial
Specimen Type:	Blood
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:	Fresh Frozen Tissue
Requirements:	50mg for Tissue
Shipping Conditions:	Fresh Tissue 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.
Specimen Type:	Liver
Requirements:	50mg for Liver
Shipping Conditions:	Liver 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.
Specimen Type:	Purified DNA
Requirements:	Send at least 5ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7).
Shipping Conditions:	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Specimen Type:	Skeletal Muscle
Requirements:	50mg for Muscle
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.

Billing Information
Turn Around Time:	50 days
List Price:	*For Insurance or Institutional Prices, please call.
CPT Codes:	81401 x 6, 81479 x 29