Custom Family Sequence Analysis
(Familial Mutation/Variant Analysis)
|
| Test Information: |
Confirmation of Clinical Diagnosis - Known Mutation(s), Presymptomatic Testing - Known Mutation(s) |
| Test Details |
| Test Code: |
1580 |
| Test Includes: |
Sequencing of the region(s) containing the familial alteration(s)
|
| Special Notes: |
Test codes 1580-1589 are to be used when requesting sequencing of a known familial mutation(s) and/or Variants of Unclear Clinical Significance (VUS) for which the BCM-MGL does not provide a separate specific test code. These should only be used when the BCM-MGL has already identified the sequence change in the proband/original patient using Sanger sequencing methodologies. If proband testing was performed at another lab, call to discuss prior to sending sample. Please select one test code per each gene requesting targeted testing (EX: first gene is test code 1580, second gene is test code 1581, etc.).
|
| 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 |
