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2014677
Expanded Carrier Screen by Next Generation Sequencing with Fragile X
ECS SEQ FX
Ordering Recommendation
Use for customized expanded carrier screening, including testing for Fragile X syndrome. Refer to the example Enhanced Report for a list of genes tested and their disease associations.
New York DOH Approval Status
This test is New York state approved.
Specimen Required
Patient Preparation
Collect
Lavender (EDTA).
Specimen Preparation
Transport 4 mL whole blood. (Min: 1 mL)
Test is not performed at ARUP; separate specimens must be submitted when multiple tests are ordered.
Storage/Transport Temperature
Refrigerated.
Unacceptable Conditions
Remarks
Patient history form is required.
Stability
Ambient: 48 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing / Polymerase Chain Reaction (PCR)
Performed
Varies
Reported
17-21 days
Reference Interval
By report
Interpretive Data
Compliance Category
Performed by non-ARUP Laboratory
Note
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
N/A
CPT Codes
81479
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2014678 | EER Expanded Carrier SCRN NGS w/FRAG X | 11526-1 |
| 2014679 | Expanded Carrier SCRN NGS w/FRAG X | 53039-4 |
* 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
Expanded Carrier Screen by Next Generation Sequencing with Fragile X
Myriad Women's Health
