Medical Genetics Test Details
View Custom Req | Tests in Custom Req: 0
| Custom Proband Sequence Analysis (Familial Mutation/Variant Analysis) |
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| Test Information: | Confirmation of Clinical Diagnosis - Known Mutation(s), Presymptomatic Testing - Known Mutation(s) | |
| Test Details | ||
| Test Code: | 1560 | |
| Test Includes: |
Sequencing of the region(s) containing the familial alteration(s) | |
| Special Notes: |
Confirmation of TARGETED mutation(s) and/or Variants of Unclear Clinical Significance (VUS) testing: • Confirmation of test results that has not previously been completed in a CLIA/CAP lab (such as research lab results) • Confirmation of proband's Whole Exome Sequencing (WES) results. These test codes should only be used for confirmation of genes which the BCM-MGL does not provide a separate specific test code. Records from the lab that identified the sequence change that is being requested MUST accompany the requisition. For Autosomal Dominant, Homozygous or X-linked Targeted Gene Testing: Use test codes 1560-1569 for requests when confirmation of only ONE sequence change is being requested for that gene. Complete one test code request for EACH gene. For Autosomal Recessive Targeted Gene Testing: Use test codes 1570-1579 for requests when confirmation of TWO sequence changes are being requested for that gene. Complete one test code for EACH gene that TWO sequence changes are being confirmed. |
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| Technical Information | ||
| Methodology: | Sequencing analysis of the region(s) containing the targeted alteration(s) is performed in the forward and reverse directions | |
| Gene Name: | Multiple | |
| Protein Name: | Multiple | |
| Test Type: | Sequence Analysis | |
| Sample & Shipping Information | ||
|---|---|---|
| Test Requisition: | Custom Proband Sequencing | |
| Specimen Type: | Blood | |
| Requirements: | Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs (adults). |
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| Shipping Conditions: | Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. |
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| Specimen Type: | Saliva | |
| Requirements: | Collected with Oragene DNA Self-Collection Kit (provided by MGL with instruction). | |
| 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: | 6 weeks | |
| Billing Information | ||
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| List Price: | *For Insurance or Institutional Prices, please call. | |
| CPT Codes: | 81479x1 | |