Expanded Carrier Screen by Next Generation Sequencing

Casandra

Casandra Test Code AR84649Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2014680CPT Code 81479

Expanded Carrier Screen by Next Generation Sequencing

Also known as: ECS SEQ

Clinical Use

Order Test

Use

The Expanded Carrier Screen by Next Generation Sequencing is utilized for customized expanded carrier screening. This test helps in identifying carriers of genetic disorders, allowing for informed decision-making for family planning. It assesses a broad range of genetic disorders by sequencing a set of genes associated with various autosomal recessive conditions. This test is particularly useful for individuals or couples who are planning a pregnancy or are currently expecting, providing insights into potential genetic risks for offspring.

Special Instructions

This test is performed by a non-ARUP laboratory, Myriad Women's Health. It requires a patient history form submission and is applicable for individuals who are at least 18 years old, are pregnant, actively seeking/planning pregnancy, or are male partners of a pregnant patient. Hematologic abnormalities may be present in carriers, but they typically do not experience symptoms.

Limitations

The test is not performed at ARUP Laboratories. It requires separate specimen submission if multiple tests are ordered. Ethnicity details, if not provided by the patient, will be assumed as Northern European for the results by Myriad. Stability constraints are applicable with ambient stability lasting for 48 hours, refrigerated stability up to 2 weeks, and frozen conditions deemed unacceptable. The results report carrier status without providing diagnostic information for symptomatic individuals.

Test Details

New York Approved