Medical Genetics Test Details
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| High Bone Mass Panel by Massively Parallel Sequencing (BCM-MitomeNGS)
Skeletal Dysplasia Panel |
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| Test Information: | Confirmation of Clinical Diagnosis, Carrier Testing | |
| Test Details | ||
| Test Code: | 2200 | |
| Test Includes: |
The following genes are included in this panel: ANKH, CA2, CLCN7, CTSK, FAM123B, FAM20C, LEMD3, OSTM1, SOST, TCIRG1, TGFB1, TNFRSF11A, TNFSF11, and TYROBP. | |
| Special Notes: |
For more information, please see: Next-generation sequencing for disorders of low and high bone mineral density Testing of the prenatal sample for this NGS panel is currently not available. Sequence analysis can also be ordered separately: CA2 (#2600), CLCN7 (#2610), CTSK (#2440), FAM123B (#2570), FAM20C(#2575), LEMD3 (#2425), OSTM1 (#2605), SOST (#2590), TCIRG1 (#2620), TGFB1 (#2585), and TNFSF11 (#2645). |
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| Technical Information | ||
| Methodology: | Targeted Capture followed by Massively Parallel Sequencing | |
| Gene Name: | Please see "Test Includes" section. | |
| Sample & Shipping Information | ||
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| Test Requisition: | Molecular Diagnostics | |
| 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. |
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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: | 81479x15 | |