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.

Mnemonic

FAM NGS FE

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-14 days; if culture is required, an additional 2 weeks is required for processing time

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

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.

Specimen Preparation
Storage/Transport Temperature
Unacceptable Conditions
Remarks

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).

Stability

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.

Compliance Category

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

N/A

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
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • familial variant test
  • known familial variant/mutation
  • Sequencing for familial mutation
  • site-specific analysis
  • variant-specific DNA
Familial Targeted Sequencing, Fetal