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16313: Xsense(r), Fragile X With Reflex Print View
Fragile X PCR      

PRIMARY
1 Whole Blood EDTA 4 (3) mL   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
ALTERNATE
  Whole Blood ACD 4 (3) mL   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
  Whole Blood Heparin 4 (3) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  

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.

Whole blood: Normal phlebotomy procedure. Specimen stability
is crucial. Store and ship room temperature immediately.
Do not freeze.
Setup Schedule
Sunday-Saturday

Reported (Analytical Time)
6-10 days

CPT Code
81243

The CPT codes provided 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 payer being billed.

Notes
Transport Temperature: Room temperature Reject Criteria: Extensive hemolysis observed; sample received frozen Methodology: Polymerase Chain Reaction with Detection by Capillary Electrophoresis Test set up: Daily Report available: 10 days (4days for PCR and 6 days additional if reflex is required).






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