Targeted Variant, Fetal Analysis
Also known as: Family testing, Known variant analysis, Mutation specific sequencing, MUTSEQ
Use
This test is used for prenatal diagnosis for pregnancies at risk for known variants in genes included in any Inheritest® or GeneSeq® Cardio panel.
Special Instructions
Not provided.
Limitations
The technologies used in this test do not detect germline mosaicism, and cannot rule out large chromosomal aberrations, rearrangements, or gene fusions. They also do not cover variants in regions or genes not included in the test or possible intergenic or intragenic interactions or repeat expansions. The interpretation of variant classification can change over time with more data. False results may occur due to rare genetic variants, sex chromosome abnormalities, pseudogene interference, and other factors such as mislabeled samples or incorrect family relationships.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 50397-9 - Mol dx interp Bld/T Ql
- 42784-9 - Ethnic Background Stated
- 31208-2 - Specimen source
- 89993-0 - Clinical genetics Counseling note
- 42349-1
- 11951-1 - Fet ID
- 50397-9 - Mol dx interp Bld/T Ql
- 53039-4 - Gene dis anl carrier interp-Imp
- 8262-8 - Service Cmnt 02-Imp
- 59266-7 - Maternal Cell Contam Spec
- 62385-0 - Recommendation Patient Doc-Imp
- 55752-0 - Clinical info
- 8251-1 - Service Cmnt-Imp
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
- 51969-4 - Gene analysis narr rpt Doc
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
10 mL
Minimum Volume
10 mL
Container
sterile plastic conical tube or T-25 flask
Collection Instructions
Standard sterile techniques; transfer aseptically to sterile tubes. Discard first 2 mL of fluid aspirated to avoid maternal cell contamination.
Storage Instructions
Maintain specimen at room temperature. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Expedited shipping required at room temperature. |
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