Familial Dysautonomia Mutation Analysis

Test Code
90912

CPT Codes
81260

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
4 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume
3 mL

Other Acceptable Specimens
Whole blood collected in: ACD solution A or B (yellow-top), EDTA (royal blue-top), sodium heparin (green-top) or lithium heparin (green-top) tube • Amniotic fluid • Cultured amniocytes • Chorionic villus sampling

Instructions
Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. For prenatal diagnosis with a fetal specimen: 1) parents must be documented carriers of one of the mutations tested; 2) maternal blood or DNA must be available; 3) contact the laboratory genetic counselor before submission.

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

Amniocyte culture (acceptable): Sterile T25 flask, filled with culture medium. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.

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

Transport Temperature
Room temperature

Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Methodology
Polymerase Chain Reaction (PCR) • Next Generation Sequencing

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: Mon, Sat; Report available: 11-17 days

Limitations
This test only detects the two mutations that are responsible for approximately 99.5% of the Familial dysautonomia mutations common in the Ashkenazi Jewish population.

Reference Range
See Laboratory Report

Clinical Significance
Familial Dysautonomia (FD, affecting the autonomic nervous system) has a carrier rate of 1 in 40 in Ashkenazi Jewish individuals, This assay detects 99.5% of FD mutations in that population.

Performing Laboratory
Quest Diagnostics Nichols Inst San Juan Capistrano
33608 Ortega Highway
San Juan Capistrano, CA 92690-6130



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.