Ordering Recommendation

Consultation with a genetic counselor is advised. Order for fetal testing to detect a previously characterized variant in a family member. Sequencing is currently limited to the following genes: HBB, HBA1, HBA2, HBG1, HBG2, and GBA.




Polymerase Chain Reaction/Sequencing


Sun- Sat


5-10 days

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

Contact ARUP's genetic counselors at (800) 242-2787 extension 2141 prior to test submission for specimen requirements and submission information.

Specimen Preparation
Storage/Transport Temperature
Unacceptable Conditions

Documentation of the familial gene variants(s) is required to perform targeted sequencing. Submit a copy of a relative's laboratory test report documenting the gene and specific variants(s) for which testing is requested.

Submit a positive control with the patient specimen for appropriate interpretation, order Sequencing Control. Fetal samples tested without a familial positive control may be subject to a disclaimer.

A maternal specimen is recommended for proper fetal test interpretation. Order Maternal Cell Contamination, Maternal Specimen.

Testing will begin upon receipt of all necessary components, including: an original laboratory report detailing the familial variant(s) to be tested, a maternal specimen for maternal cell contamination testing, and a familial positive control sample.


Reference Interval

By report

Interpretive Data

By report

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US 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)


Genes currently limited to: HBB, HBA1, HBA2, HBG1, HBG2, GBA.

Hotline History


CPT Codes

Varies by gene; 81265 Fetal Cell Contamination.


Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 66746-9
2001963 Targeted Sequencing Gene 48018-6
2001965 Targeted Sequencing Interpretation 50398-7
2001981 SEQ FSM FE Specimen 31208-2
* 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.


  • Sequencing for familial mutation
  • site-specific analysis, familial variant test, known familial variant/mutation, variant-specific DNA
Familial Mutation, Targeted Sequencing, Fetal (Inactive as of 11/14/2022)