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Test Code LAB6943 Fragile X DNA FMR-1

Performing Section

PRECISION DIAGNOSTICS

Purpose/Principle

To measure the number of trinucleotide repeats in the 5’-untranslated regions of the FMR-1 gene, a three primer (triple) CGG repeat-primed FMR1 PCR method is utilized.

Special Collection Notes

Collect specimen according to standard operating procedure.

Specimen Type

-Whole Blood:

Purple Top Tube-EDTA

 

-Mouth:

Buccal Swab

Specimen Volume

Whole Blood
Preferred: 4.0 mL
Minimum: 0.5 mL

Processing Instructions

Store and ship ambient. If transport is longer than 4 hours send refrigerated on cold pack.

 

NOTE: Samples should be shipped after collection as soon as possible. Ship samples for arrival at Children’s Hospital Colorado on Monday through Thursday. Our recommendation is to use FedEx or UPS for shipping and obtain a tracking number to ensure safe delivery. Samples that are received on a Friday afternoon, Saturday, Sunday or before a major holiday will not be processed until the next business day. If samples need to be stored in your laboratory prior to shipping, they should be stored at room temperature for no more than 72 hours.

Temperature

Ambient/Refrigerated

Test Components

Reflex Southern Blot
Fragile X FMR1 Result

Reference Range

Reflex Southern Blot

Yes, No

 

Fragile X FMR1 Result

Not Detected, Intermediate Mutation

TAT

10 days

Additional Notes

Reflex to Southern blot if positive

CPT

81243