A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Familial Mediterranean Fever Mutation Analysis
Test Code16141
CPT Codes
81402 <br /> For New York State patient testing, use Test Code 16142.
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender or royal blue-top) tube, acid citrate dextrose ACD (yellow-top) tube, or sodium or lithium heparin (green-top) tube
Minimum Volume
3 mL
Other Acceptable Specimens
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
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.
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 Temperature
Room temperature
Specimen Stability
Whole blood (preferred)
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
All other specimens
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
All other specimens
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Methodology
Polymerase Chain Reaction (PCR) • Single Nucleotide Primer Extension
FDA Status
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.
Setup Schedule
Set up: Tues a.m.; Report available: 8-15 days
Reference Range
See Laboratory Report
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.
2. To identify carriers in high risk ethnic groups or people with a positive family history.
3. Prenatal diagnosis of Familial Mediterranean Fever.
Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
33608 Ortega Highway |
San Juan Capistrano, CA 92675-2042 |