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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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Comprehensive mtDNA Analysis by Massively Parallel Sequencing (MitoNGSSM)
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)

Gene          Product
MT-ATP8     ATP synthase, Fo subunit 8 (complex V)
MT-ATP6     ATP synthase, Fo subunit 6 (complex V)
MT-CO1      Cytochrome c oxidase, subunit 1 (complex IV)
MT-CO2      Cytochrome c oxidase, subunit 2 (complex IV)
MT-CO3      Cytochrome c oxidase, subunit 3 (complex IV)
MT-CYB      Cytochrome b (complex III)
MT-ND1      NADH dehydrogenase, subunit 1 (complex I)
MT-ND2      NADH dehydrogenase, subunit 2 (complex I)
MT-ND3      NADH dehydrogenase, subunit 3 (complex I)
MT-ND4L     NADH dehydrogenase, subunit 4L (complex I)
MT-ND4      NADH dehydrogenase, subunit 4 (complex I)
MT-ND5      NADH dehydrogenase, subunit 5 (complex I)
MT-ND6      NADH dehydrogenase, subunit 6 (complex I)
MT-TA        tRNA-Alanine (Ala or A)
MT-TR        tRNA-Arginine (Arg or R)
MT-TN        RNA-Asparagine (Asn or N)
MT-TD        tRNA-Aspartic acid (Asp or D)
MT-TC        tRNA-Cysteine (Cys or C)
MT-TE        tRNA-Glutamic acid (Glu or E)
MT-TQ        tRNA-Glutamine (Gln or Q)
MT-TG        tRNA-Glycine (Gly or G)
MT-TH        tRNA-Histidine (His or H)
MT-TI         tRNA-Isoleucine (Ile or I)
MT-TL1       tRNA-Leucine (Leu-UUR or L)
MT-TL2       tRNA-Leucine (Leu-CUN or L)
MT-TK        tRNA-Lysine (Lys or K)
MT-TM        tRNA-Methionine (Met or M)
MT-TF         tRNA-Phenylalanine (Phe or F)
MT-TP         tRNA-Proline (Pro or P)
MT-TS1       tRNA-Serine (Ser-UCN or S)
MT-TS2       tRNA-Serine (Ser-AGY or S)
MT-TT         tRNA-Threonine (Thr or T)
MT-TW        tRNA-Tryptophan (Trp or W)
MT-TY         tRNA-Tyrosine (Tyr or Y)
MT-TV         tRNA-Valine (Val or V)
MT-RNR1     Small subunit : SSU (12S)
MT-RNR2     Large subunit : LSU (16S)
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.

Turn Around Time: 50 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81460x1, 81465x1


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