Medical Genetics Test Details
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|Fatty Acid Oxidation Deficiency Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)|
|Test Information:||Confirmation of Clinical Diagnosis, Carrier Testing|
Twenty-two genes involved in Fatty Acid Oxidation Deficiency are analyzed using Next Generation sequence technology. All exons of these 22 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 (BCM-MitomeNGSSM) will not
detect genomic structural rearrangements (eg. deletions, duplications, and inversions), large insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing. The genes included in the Fatty Acid Oxidation Deficiency by Massively Parallel Sequencing (BCM-MitomeNGSSM) are:
ACAD9 (#3900), ACADL (#3385), ACADM (#3115), ACADS (#3925), ACADVL (#3355), CPT1A (#3365), CPT1B (#3370), CPT2 (#3160), ETFA (#3855), ETFB (#3860), ETFDH (#3840), GLUD1, HADH (#29030), HADHA (#3120), HADHB (#3630), HMGCL (#5060), HMGCS2 (#29025), HSD17B10 (#5040), LPIN1 (#3280), SLC22A5 (#3360), SLC25A20 (#3435), and TAZ (#3610).
|Methodology:||Targeted Capture followed by Massively Parallel Sequencing|
|Gene Name:||Please see "Special Notes" section for a list of genes.|
|Sample & Shipping Information|
|Test Requisition:||Molecular Diagnostics|
|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|
|List Price:||*For Insurance or Institutional Prices, please call.|
|CPT Codes:||81401 x 1, 81404 x 1, 81405 x 3, 81406 x 6, 81479 x 11|