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Test Code FMV Familial Mediterranean Fever Mutation Analysis

Performing Laboratory

Quest Diagnostics Nichols Institute, Chantilly, VA

Methodology

Polymerase Chain Reaction (PCR) • Single Nucleotide Primer Extension

 

Set up: Tuesday a.m.

Report available: 9 -16 days

 

Reference Values

See Reference Report

 

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Physician Office Specimen Requirements

Container/Tube: Lavender EDTA tube

Specimen: 5 mL while blood EDTA ( 3 mL min)

Transport Temperature: Room Temperature

 

Note: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately.

            Do not freeze.

For prenatal diagnosis parental results must be available. Contact the laboratory genetic counselor before submission.
 

Alternative Specimen(s)

Cultured cells collected from amniotic fluid or CVS in two T-25 Flasks • 20 mL (10 mL minimum) amniotic fluid in leak-proof 15 mL conical tubes • 10-20 mg dissected CVS

Collection Instructions

Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. For prenatal diagnosis parental results must be available. Contact the laboratory genetic counselor before submission.

Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.

Amniocyte or CVS culture: Two-Sterile T25 flasks, filled with culture medium. Specimen stability is crucial. Store and ship room temperature. Do not refrigerate or freeze.

Dissected chorionic villi (CVS) biopsy: 10-20 mg dissected CVS collected in a sterile tube filled with sterile culture medium. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze


 

Computer Interface Code

PDM #  5900768

CPT Code Information

81402

Useful For

The test identifies disease-causing mutations in individuals affected with Familial Mediterranean Fever (FMF). It can also be used in identifying carriers in high-risk ethnic groups and in prenatal diagnosis.

 

Clinical Significance

1. To identify disease-causing mutations in individuals affected with Familial Mediterranean Fever.
2. To identify carriers in high risk ethnic groups or people with a positive family history.
3. Prenatal diagnosis of Familial Mediterranean Fever.