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Familial Targeted Sequencing, Fetal
Ordering Recommendation
Fetal testing for a previously identified familial sequence variant by sequencing the gene of interest. A copy of the family member’s test result documenting the familial gene variant is REQUIRED. Not all genes/variants are covered by this assay; see the attached Targeted Sequencing Gene List within Supplemental Resources for genes and regions available for this test.
Consultation with a genetic counselor is advised to determine if the variant of interest is detectable with this assay and if there are gene-specific technical considerations; please call 800-242-2787 ext. 2141. Testing will not proceed if requested variant or gene is not covered. The common variants CFTR F508del and 5T (IVS8) are not tested by this assay. Only the requested sequence variant of interest and other incidentally detected pathogenic or likely pathogenic sequence variants related to the condition in the gene of interest will be reported.
New York DOH Approval Status
Specimen Required
Submit fetal specimen and maternal whole blood specimen. To avoid delays due to inappropriate sample submission, contact ARUP's genetic counselors at 800-242-2787 ext. 2141 for specimen requirements prior to sending samples.
New York State Clients: ARUP cannot facilitate testing for New York patients. Please work directly with a New York approved laboratory.
Documentation of the familial gene variants from a relative's laboratory test report is required to perform testing. Testing will begin upon receipt of all necessary components, including an original laboratory report detailing the familial variant to be tested. A maternal specimen is recommended for proper fetal test interpretation. Order Maternal Cell Contamination on the maternal specimen. (ARUP test code 0050608).
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
10-14 days
If culture is required, add 1-2 weeks.
Reference Interval
By report
Interpretive Data
Refer to report
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA-certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Note
Reported times are based on receiving the cultured fetal sample (at 80 percent confluency) and required documentation. Backup cultures must be retained at the client's institution until testing is complete. If the client is unable to culture the fetal sample, this can be arranged by contacting ARUP Client Services at 800-522-2787 prior to test submission. Cell culture time is independent of testing turnaround time. Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination, Maternal Specimen on the maternal specimen.
Hotline History
CPT Codes
81403; 81265 Fetal Cell Contamination (FCC)
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 0050548 | Maternal Contamination Study Fetal Spec | 59266-7 |
| 0050612 | Maternal Contam Study, Maternal Spec | 66746-9 |
| 3005870 | FAM NGS FE Specimen | |
| 3005871 | FAM FE Interp |
Aliases
- familial variant test
- known familial variant/mutation
- Sequencing for familial mutation
- site-specific analysis
- variant-specific DNA
