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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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CoQ10 Deficiency (5 gene panel by NGS) tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis CoQ10 Deficiency Deletion/Duplication Panel
Test Code: 2103
Next Gen Sequencing & Del/Dup Analysis CoQ10 Comprehensive Panel (Massively Parallel Sequencing and Deletion/Duplication Analysis)
Test Code: 2104
Next Gen Sequencing Panel Analysis CoQ10 Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Code: 2100


CoQ10 Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Information: Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain. Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder with 5 major phenotypes: an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.
Test Details
Test Code: 2100
Special Notes: All exons of these five genes are examined by NGS. 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, etc.), large insertion mutations (e.g. ALU mediated insertion, etc), mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing.

Sequence Analysis for the five genes in CoQ10 Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately: PDSS1 (#3405), PDSS2 (#3410), COQ2 (#3415), COQ9 (#3775),and ADCK3 (COQ8/CABC1) (#3850).
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing
Gene Name: PDSS1, PDSS2, COQ2, COQ9,and ADCK3 (COQ8/CABC1)
Test Type: Next Gen Sequencing Panel Analysis
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 48 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: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x5


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