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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 required to determine if the variant(s) of interest is/are 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.
Maternal cell contamination (MCC) analysis is required and performed at no additional charge. Order Maternal Cell Contamination, Maternal Specimen (0050608) on a maternal blood specimen.
For guidance on ordering maternal cell contamination studies, please refer to Maternal Cell Contamination (MCC) Analysis Guide.
New York DOH Approval Status
Specimen Required
Fetal Specimen: Cultured amniocytes OR cultured chorionic villi.
Maternal Specimen: Refer to Maternal Cell Contamination, Maternal Specimen (0050608) for maternal specimen requirements.
Cultured Amniocytes or Cultured CVS: Fill flasks with culture media. Transport two T-25 flasks of 90 percent confluent cultured amniocytes or two T-25 flasks of 90% cultured chorionic villi sampling (CVS).
This assay is not performed on direct amniotic fluid or direct chorionic villi specimens. Clients submitting direct amniotic fluid and direct chorionic villi must add Cell Culture for Genetic Testing (3020627) to the initial order.
If ARUP receives cultured specimens below the minimum confluence, Cell Culture for Genetic Testing (3020627) will be added by ARUP for an additional fee. The client is responsible for maintaining backup cultures.
Cultured Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to viability of cells.
Testing will begin upon receipt of all necessary components, including a clinical laboratory report detailing the familial variant(s) to be tested. Patient history forms and informed consent documents are available by selecting the links above or by contacting ARUP Client Services. Counseling and informed consent are recommended for genetic testing.
Cultured Amniocytes or Cultured CVS: Room temperature: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
10-14 days
Notes: Cell culture time is independent of testing turnaround time. Reported times are based on receiving the two T-25 flasks at 90 percent confluency and required documentation. If cell culture is required at ARUP, an additional 1 to 2 weeks is required for processing time.
Reference Interval
Refer to report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
Only the requested sequence variant(s) of interest and other incidentally detected pathogenic or likely pathogenic sequence variants related to the condition in the gene of interest will be reported.
Hotline History
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
