Medical Genetics Test Details
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| Cobalamin Metabolism Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM) | ||
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| Test Information: | Confirmation of Clinical Diagnosis, Carrier Testing, Differential Diagnosis | |
| Test Details | ||
| Test Code: | 2120 | |
| Special Notes: |
All exons of these twenty 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 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), SUCLA2 (#3375), SUCLG1 (#3390), SUCLG2 (#3960) and TCN2 (#3965). |
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| Technical Information | ||
| Methodology: | Targeted Capture followed by Massively Parallel Sequencing | |
| Gene Name: | See "Special Notes" section. | |
| Test Type: | Next Generation Sequencing | |
| 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. |
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| 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. |
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| Turn Around Time: | 56 days | |
| Billing Information | ||
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| List Price: | *For Insurance or Institutional Prices, please call. | |
| CPT Codes: | 81404 x 1, 81405 x 2, 81406 x 3, 81479 x 14 | |