Medical Genetics Test Details
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|Cobalamin Metabolism Panel + Severe MTHFR Deficiency by Massively Parallel Sequencing|
|Test Information:||Confirmation of Clinical Diagnosis, Carrier Testing, Differential Diagnosis|
All exons of these twenty one 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 twenty genes in Cobalamin Metabolism Panel + Severe MTHFR Deficiency by Massively Parallel Sequencing 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), MTHFR, MTR (#2050), MTRR (#2565), MUT (#3585), SUCLA2 (#3375), SUCLG1 (#3390), SUCLG2 (#3960) and TCN2 (#3965).
For MTHFR Sequencing:
This test is intended to detect variants associated with severe MTHFR deficiency. The c.665C>T (p.A222V) and c.1286A>C (p.E429A) variants in the MTHFR gene, if detected, are considered to be likely benign changes and may not be included in the report as testing for these two polymorphisms has limited clinical utility [Genet Med 2013:15(2):153-156]. An expanded report including the status of c.665C>T (p.A222V) and c.1286A>C (p.E429A) variants is available upon request.
|Methodology:||Targeted Capture followed by Massively Parallel Sequencing|
|Gene Name:||See "Special Notes" section.|
|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:||81291x1, 81404 x 1, 81405 x 2, 81406 x 3, 81479 x 14|