Familial Targeted Sequencing
Also known as: FAM NGS
Use
This test is used for the analysis of a previously identified familial sequence variant by sequencing the gene of interest. It is designed to help determine if a specific gene variant, known to exist in a family, is present in the individual being tested. It provides valuable information for genetic consultations and helps in the diagnosis of genetic conditions associated with the familial variant.
Special Instructions
Not provided.
Limitations
The test evaluates only the specified familial variant(s) of interest and other incidentally detected pathogenic or likely pathogenic variants related to the condition of interest within the targeted gene(s) region(s). A negative result does not exclude all genetic diagnoses. Deletions/duplications/insertions of any size may not be detected. Regulatory region variants, deep intronic variants, and large deletions/duplications will not be identified. Diagnostic errors can occur due to rare sequence variations. The test is not intended to detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA (mtDNA) mutations, aneuploidies, or repeat expansions.
Methodology
NGS (Targeted)
Biomarkers
No genes
Gene
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
1 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant