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Fragile X Mutation


Test Information

Test Name: Fragile X Mutation

Performing Lab: Molecular Diagnostic

Synonyms: Fragile X

Order Includes: Fragile X Mutation

Turnaround Time: 21 days

Additional Interpretation: Used to identify causes of mental retardation in males and determine premutation or mutation status in females.

Methodology: PCR analysis of samples is performed using three primers, including two FMR1-specific forward and reverse primers which flank the CGG repeat region and a third primer complementary to the CGG-repeats. The reverse primer is fluorescently-labeled allowing for detection of the PCR product with capillary eletrophoresis. The CGG repeat length is calculated from the PCR product size using an internal size standard run with each sample and an external allele standard as a calibrator.

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CPT Code: 81243

 

 

Result Information

No Information Available

 

 

Specimen & Collection Information

Specimen Name: Whole Blood

Container Type: Lavender Top (EDTA)

Special Handling: Refrigerate

Specimen Volume: Collect 3.0 ml peripheral blood purple top or pink top tubes (EDTA) or yelow top (ACD) tubes.

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Specimen Transportation & Storage Information

Storage and Transport:Blood:
Deliver to the lab immediately. Remote Locations : Blood:
Do not spin. Store refrigerated at 2°C to 8°C.