XSense®, Fragile X with Reflex

Test Code
FRX (16313)

Quest Code
16313

CPT Codes
81243

Includes
If Fragile X, PCR result is not Normal, or Gray zone, then Fragile X Methylation Analysis will be performed at an additional charge (CPT codes(s): 81244)

Preferred Specimen
4 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume
3 mL

Other Acceptable Specimens
ACD (yellow-top), or sodium heparin (green-top) tube

Instructions
Normal phlebotomy procedure. Specimen stability is crucial.
Store and ship room temperature immediately. Do not freeze.

Transport Temperature
Room temperature

Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Extensive hemolysis observed • Sample received frozen

Methodology
Polymerase Chain Reaction (PCR) with Detection by Capillary Electrophoresis

Setup Schedule
Sun-Sat

Report Available
6 to 10 Day(s)

Limitations
This analysis evaluates only the size of the FMR1 CGG repeat and cannot detect other possible chromosomal or DNA abnormalities. This assay cannot rule out the possibility of Fragile X syndrome caused by any other type of mutation in the FMR1 gene. In addition, this assay may not detect a FMR1 CGG expansion that presents with low-level mosaicism (this means that the expansion is present in only some cells not all cells). DNA analysis can predict the occurrence of Fragile X syndrome, but not the severity of the condition.

Reference Range
See Laboratory Report

Clinical Significance
Fragile X syndrome (FXS OMIM # 300624) is the most common inherited mental retardation syndrome, affecting approximately 1:4000 males and approximately 1:8000 females. The disease is caused by the expansion of a trinucleotide CGG repeat in the 5'-untranslated (UTR) region of the FMR1 gene. Methylation of the expanded CGG tract leads to silencing of expression of the FMR1 gene. The American College of Medical Genetics defines a normal repeat length as between 5 and 44. Intermediate alleles of between 45-54 repeats almost never expand to full mutations in a single meiosis. Premutation alleles are defined as 55-200 CGG. Premutation alleles of less than 90 repeats have a variable risk for expansion to full mutations whereas larger premutation alleles almost always expand when inherited through a female. Full mutation alleles are defined as >200 repeats. FXS in an X-linked dominant disease. The test is used to detect the presence of expanded alleles in the FMR1 gene and to distinguish normal homozygous females from full mutation carriers.

Performing Laboratory
Quest Diagnostics Nichols Institute San Juan Capistrano
33608 Ortega Hwy
San Juan Capistrano, CA 92675-2042



The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.