Expanded Carrier Screen by Next Generation Sequencing with Fragile X

Casandra

Casandra Test Code AR36077Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2014677CPT Code 81479

Expanded Carrier Screen by Next Generation Sequencing with Fragile X

Also known as: ECS SEQ FX

Clinical Use

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Use

This test provides a comprehensive analysis for carrier screening by detecting various genetic disorders, including Fragile X syndrome, through next-generation sequencing techniques. It is suitable for individuals who are pregnant or actively planning a pregnancy, or male partners of those who are pregnant. The test aims to identify carriers of genetic conditions that may not display symptoms themselves but have a risk of passing to offspring, allowing for informed genetic counseling and family planning.

Special Instructions

The test is not performed at ARUP but requires separate specimen submission when multiple tests are ordered. It's performed by Myriad Women's Health, Inc., and requires a patient history form which includes demographic details like ethnicity, as results may be influenced by ethnic background. A prenatal or expanded carrier screening patient history form should accompany the order.

Limitations

The test detects a wide range of genetic disorders but may not encompass all possible genetic variations or mutations. Results could be affected by the quality of the DNA sample, and false negatives or positives are possible depending on the specific genetic variation. Ethnicity information is crucial for interpretation, and missing this data, Myriad defaults the interpretation based on Northern European ancestry. Limitations are also present in terms of detecting certain types of changes, such as large deletions or duplications.

Test Details

New York Approved