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Familial Mediterranean Fever Mutation Analysis (NY)
Test Code16142
CPT Codes
81402<br><strong>For non-New York patient testing, use test code 16141</strong>
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
5 mL whole blood collected in EDTA (lavender-top) tube
Minimum Volume
3 mL whole blood • 10 mL amniotic fluid
Other Acceptable Specimens
Whole blood collected in ACD solution (yellow-top), sodium heparin (green-top), lithium heparin (green-top), EDTA (royal blue-top) • Cultured cells from Amniotic fluid in T-25 Flask [x2] • Cultured cells from CVS in T-25 Flask [x2] • 20 mL 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
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Cultured cells from amniotic fluid, CVS, or amniotic fluid
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Cultured cells from amniotic fluid, CVS, or amniotic fluid
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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Tues; Report Available: 7-14 days
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.