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Test Code LAB9757 Fragile X Syndrome

Methodology

Polymerase Chain Reaction (PCR) Screen

 (PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Performing Laboratory

Barnes-Jewish Hospital Laboratory

Specimen Requirements

Call Barnes-Jewish Hospital Molecular Diagnostics Laboratory at 314-454-8685 for collection instructions.

 

Prior consultation with a medical geneticist is recommended.

 

Forms: Molecular Diagnostics Requisition

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: Full tube

Specimen Minimum Volume: 3-5 mL

Collection Instructions: Invert several times to mix blood. Clotted blood is not acceptable.

Additional Information: Specimen cannot be frozen.

 

Specimen Type: Prenatal diagnosis

Container/Tube: Specimen container

Specimen Volume: 1 x 106 nucleated cells

Collection Instructions: Send cells in cell medium (amniocentesis ONLY, not chorionic villi sampling [CVS]).

Specimen Transport Temperature

Ambient/Refrigerate/Frozen NO

Reference Values

An interpretive report will be provided.

Literature Reference:

Warren ST, Nelson DL. Advances in molecular analysis of Fragile X syndrome. JAMA 16 February 1994;271:536-42.

Jacquemont S, Hagerman R, Leehey M, et al. Penetrance of the Fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004;191,No. 4.J

Day(s) Test Set Up

Monday
Turnaround Time:
STAT: not available
Routine: 5 to 7 business days

Test Classification and CPT Coding

81243 

 

Additional Information

For BJH Laboratory Use Only
Analyte Stability:

Blood is stable 0 to 4 hours at ambient temperature, up to 168 hours refrigerated.

Laboratory Processing Instructions:
Test performed in BJH Molecular Diagnostics.