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.
Specimen Type
Blood
Container
Lavender Top Tube
Collection Instructions
Container/Tube: Lavender EDTA tube Specimen: 5 mL whole 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
Transport Instructions
Room Temperature
Specimen Stability
Methodology
Polymerase Chain Reaction (PCR) • Single Nucleotide Primer Extension
Set up: Tuesday a.m. Report available: 9 -16 days
Days Performed
Performing Laboratory
Quest Diagnostics' Nichols Institute, Inc. - Chantilly
