Expanded Carrier Screen by Next Generation Sequencing
Also known as: ECS SEQ
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
Not provided.
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
No genes
Gene
LOINC Codes
- 11526-1 - Pathology study
- 53039-4 - Gene dis anl carrier interp-Imp
Result Turnaround Time
17-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
1 mL
Container
Lavender (EDTA)
Collection Instructions
Transport whole blood in the original collection tube.
Storage Instructions
Refrigerated.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
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