Custom Proband Sequence Analysis (Familial Mutation/Variant Analysis)
Use
Custom Proband Sequence Analysis is utilized to evaluate the existence of a variant that was previously identified in a laboratory that is not CLIA/CAP certified. This test is particularly important for patients who have undergone testing in research laboratories and need confirmation of familial variants. It provides essential information for familial disease management and counseling. The method involves sequencing specific regions containing the familial or proband variant, making it significant for personalized medicine approaches. By identifying such variants, healthcare providers can tailor treatments and preventive strategies for patients and their families.
Special Instructions
When ordering, providers must ensure that testing records of affected family members and parental control samples are included. Testing records are critical to correlate findings with known familial variants. Order the test codes corresponding to each specific gene being analyzed. It's beneficial to consult with the laboratory for guidance and clarity on sample collection and submission requirements beforehand to ensure compliance and success in processing tests.
Limitations
The analysis is limited to variants that have been previously identified in a non-CLIA/CAP certified laboratory. Test results are contingent upon the quality and accuracy of the input samples and records provided by the referring healthcare professional. If records are incomplete or if control samples are not accessible, this might compromise the test's diagnostic value. This test is not intended for broad genetic screening and should focus solely on the known variants in the family. Results are subject to interpretation based on clinical context and familial history, and further testing may be warranted in certain scenarios.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
42 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant