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Fragile X Syndrome, Blood

Test Codes

EPIC: LAB6495, Beaker: XFRGX, DMC: 332122

Department

Send Outs

Instructions

This test is available to outpatients only. For questions, please call 800-551-0488.

Specimen Collection Criteria

Collect: Two Lavender-top EDTA tubes.

For pediatric patients, a minimum of 3.0 mL whole blood is needed.

Physician Office/Draw Specimen Preparation

Do not centrifuge. Maintain specimens at room temperature (20-26°C or 68-78.8°F) prior to transport.

Preparation for Courier Transport

Transport: 6.0 mL whole blood, at room temperature (20-26°C or 68-78.8°F). (Minimum: 3.0 mL)

Rejection Criteria

• Centrifuged specimens.
• Frozen specimens.
• Specimens not collected and processed as indicated.
• This test will only be performed once in a lifetime for a patient.

In-Lab Processing

Do not centrifuge. Maintain specimens at room temperature (20-26°C or 68-78.8°F) prior to transport.

Transport: 6.0 mL whole blood, at room temperature (20-26°C or 68-78.8°F). (Minimum: 3.0 mL)

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 72 hours
Refrigerated (2-8°C or 36-46°F): 72 hours
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

Laboratory

Sent to Detroit Medical Center (DMC) University Laboratories, Detroit, MI.

Performed

Monday – Friday.
Results available in 14 days. Rush study is available upon request.

Reference Range

Interpretation is provided with the report.

Test Methodology

Southern Blot and Polymerase Chain Reaction (PCR) based assays.

Interpretation

Limitations of this procedure include: failure to isolate and extract DNA may preclude analysis. The limits of reliability for identification of Fragile X gene carriers have not been established. Data should be combined with phenotypic, pedigree, and cytogenetic data for the most accurate interpretation.

Clinical Utility

This assay aids in the evaluation of males and females with intellectual disability or suspected X-linked developmental delay or individuals with a family history of Fragile X syndrome.

CPT Codes

81243, 81244 if needed (G0452).

Contacts

Last Updated

3/28/2023