3005867
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Familial Targeted Sequencing

FAM NGS
Example Reports
Negative
Positive

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Familial Targeted Sequencing Testing Patient History Form

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Supplemental Resources

Ordering Recommendation

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 the 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

This test is not New York state approved. There are no New York state-approved laboratories available. Submit a Non-Permitted Laboratory Request Form (NPL) to the NYDOH prior to collection of specimen. If NPL is approved by NYDOH, and sample is received at ARUP, testing will be performed.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: ARUP cannot facilitate testing for New York patients. Please work directly with a New York-approved laboratory.

Specimen Preparation

Transport 2 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.

Remarks

Documentation of the familial gene variant 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(s) to be tested.

Stability

Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

14-21 days

Reference Interval

By report

Interpretive Data

Refer to report

Compliance Category

Laboratory Developed Test (LDT)

Note

Documentation of the familial gene variant 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(s) to be tested.

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
08/19/2024
X
N/A

CPT Codes

81403

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Components

Component Test Code* Component Chart Name LOINC
3005868 FAM 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 family mutation
  • site-specific analysis
  • variant-specific DNA
Familial Targeted Sequencing