Medical Genetics Test Details
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Cobalamin Metabolism Panel (17 gene panel by NGS) tests available.
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|Diagnostic Testing||Familial Mutation/Variant Analysis||Mutation Testing General Population||Prenatal Diagnosis||Presymptomatic Testing|
Cobalamin Metabolism Deletion/Duplication Panel
Test Code: 2123
|Next Generation Sequencing||
Cobalamin Metabolism Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Code: 2120
|Next Generation Sequencing & Deletion/Duplication||
Cobalamin Metabolism Comprehensive Panel (Massively Parallel Sequencing and Deletion/Duplication Analysis)
Test Code: 2124
|Cobalamin Metabolism Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)|
|Test Information:||Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defects affecting Cbl absorption and transport (TCNII) generally manifest in infancy or early childhood as developmental delay with megaloblastic anemia. Two enzymes in mammalian cells are known to depend on cobalamin coenzymes: methylmalonyl CoA mutase (MUT), which requires AdoCbl; and methionine synthase (MTR), which requires MeCbl. Abnormalities in AdoCbl synthesis designated cblA (MMAA) and cblB (MMAb) lead to impaired methylmalonyl CoA mutase (MUT) activity and result in methylmalonic acidemia. Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MMACHC), cblD (MMADHC), cblE (MTRR)and cblF (LMBRD1). Children from these groups have methylmalonic aciduria and homocystinuria.|
All exons of these seventeen 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 (e.g. deletions, duplications, inversions, etc.), large insertion mutations (e.g. ALU mediated insertion, etc), and mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing.
Sequence Analysis for the seventeen genes in Cobalamin Metabolism Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately:
ABCD4 (#5130), ACSF3 (#2035), CBS (#3970), CD320 (#29125), GIF (#29120), HCFC1 (#29115), IVD (#3680), LMBRD1 (#2560), MCEE (#3395), MMAA (#3575), MMAB (#3580), MMACHC (#3440), MMADHC (#3885), MTR (#2050), MTRR (#2565), MUT (#3585) and TCN2 (#3965).
|Methodology:||Targeted Capture followed by Massively Parallel Sequencing|
|Gene Name:||ABCD4, ACSF3, CBS, CD320, GIF, HCFC1, IVD, LMBRD1, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT,|
|Test Type:||Next Generation Sequencing|
|Sample & Shipping Information|
|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:||81404 x 1, 81405 x 2, 81406 x 3, 81479 x 11|