Custom Sequence Analysis - Prenatal
Use
Custom Sequence Analysis - Prenatal provides a comprehensive assessment for known familial variants in prenatal samples, vital for anticipating inherited conditions. The analysis employs advanced DNA sequencing on regions where familial variants are located, which is crucial when specific tests are unavailable through the laboratory. This method maximizes the detection of single nucleotide variants (SNVs) that could have significant implications for reproductive outcomes, thus enabling expectant parents to make informed decisions. The test is tailored for patients needing genetic insights based on familial history, particularly for variants detected externally, ensuring improved prenatal care management.
Special Instructions
We recommend that referring providers consult with laboratory genetic counselors regarding the complexities of prenatal cases prior to placing an order. For better outcomes, it's vital to include parental control samples along with existing records of known familial variants. This proactive step enhances the reliability of the results, ensuring that all necessary information is accounted for before proceeding with the analysis. Contacting genetic counselors can elucidate the test's implications and streamline the testing workflow.
Limitations
While Custom Sequence Analysis - Prenatal is designed to locate known familial variants, it is essential that referring providers submit adequate positive control samples, particularly if the familial variant was identified in a non-parental family member through another laboratory. Except for familial variants, the analysis may not identify novel variants unless they correspond with previously tested family members. Thus, proper sample origins and conditions must be followed to ensure the accuracy and validity of test results. Variability in laboratory conditions or dilutions also may adversely influence sequencing outcomes that lead to misinterpretations of familial variant presence.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA (Fresh)
Volume
20ug
Minimum Volume
50ng/uL
Container
sterile container
Collection Instructions
Send at least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7).
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Specimen should be shipped at room temperature in an insulated container. |
| Frozen | Specimen cannot be frozen. |