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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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Mitochondrial Respiratory Chain Complex I Deficiency Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Information: Mitochondrial complex I (NADH-ubiquinone reductase) is one of five complexes consisting of mitochondrial respiratory chain, which plays a critical role for generating ATP. Dysfunction of mitochondrial complex I may cause a disease namely mitochondrial complex I deficiency (OMIM# 252010). Mutations in 16 nuclear genes have been reported to be associated with mitochondrial complex I deficiency. This panel will analyze every single nucleotide within each coding exon of 21 genes encoding complex I subunit and assembly genes, including immediate intronic nucleotides adjacent to exon-intron borders. Thus, this panel is appropriate for patients suspected with mitochondrial complex I deficiency.
Test Details
Test Code: 2155
Special Notes: All exons of these 21 genes are examined by NGS and Sanger Sequencing. Exonic variants and intronic variants within 20bp of the exon/intron boundary will be reported. This massively parallel sequence analysis (MitomeNGS®) will not detect genomic structural rearrangements (eg. deletions, duplications, inversions, insertions, etc.), mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing.

Sequence Analysis for the 21 genes in the Mitochondrial Respiratory Chain Complex I Deficiency Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately: FOXRED1 (#2660), NDUFA1 (#3485), NDUFA11 (#2680), NDUFAF1 (#3940), NDUFAF2 (#3535), NDUFAF3 (#2690), NDUFAF4, NDUFAF5, NDUFS1 (#2700), NDUFS2 (#3930), NDUFS3 (#3570), NDUFS4 (#3560), NDUFS5 (#3250), NDUFS6 (#3565), NDUFS7 (#3605), NDUFS8 (#3845), NDUFV1 (#3590), NDUFV3 (#2705), and NUBPL (#2710).
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing
Gene Name: Please see "Test Details" section for a list of genes.
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).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
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.
Turn Around Time: 56 days
Billing Information
List Price: $4,600.00 *Institutional discounts may apply, please call.
CPT Codes: 81479x1


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