Familial Mediterranean Fever Mutation Analysis

Test Code

16141

CPT Codes
81402<br /> For New York patient testing, use test code 16142

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 an EDTA (lavender-top) tube

Minimum Volume

Whole blood: 3 mL • Amniotic fluid: 10 mL

Other Acceptable Specimens

Whole blood collected in ACD solution (yellow-top), sodium heparin (green-top), lithium heparin (green-top) or EDTA (royal blue-top) tube • 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 tube • 10-20 mg dissected CVS in sterile tube filled with sterile culture medium

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 Temperature

Room temperature

Specimen Stability

Whole blood
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Amniotic fluid, cultured cells from amniotic fluid or CVS
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 performance characteristics have been determined by Quest Diagnostics. Performance characteristics refer to the analytical performance of the test.

This test is performed pursuant to a license agreement with Orchid Biosciences Inc.

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.

The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.