Fanconi Anemia DNA Mutation Analysis

Test Code
90897


CPT Codes
81242

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, EDTA (royal blue-top) tube, ACD (yellow-top) tube, or sodium or lithium heparin (green-top) tube


Minimum Volume
3 mL whole blood • 10 mL amniotic fluid • 10 mg CVS


Other Acceptable Specimens
Bone marrow collected in EDTA (lavender-top) tube • 10 mL amniotic fluid collected in a sterile leak-proof container • Cultured cells collected in each (x2) sterile T-25 flasks, 75% confluent • 10 mg chorionic villi collected in a sterile tube filled with sterile culture media


Instructions

Do not hold specimen; forward to laboratory when specimen arrives.

Whole blood: Specimen stability is crucial. Store and ship room at temperature immediately. Do not freeze.

For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission;
2) Documentation of parental carrier status must be provided;
3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.

Amniotic fluid (acceptable): Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.
Dissected Chorionic Villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.



Transport Temperature
Room temperature


Specimen Stability
Whole blood or bone marrow
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

All other samples
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable


Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Do not reject


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: 10-16 days


Limitations
This test detects one mutation that is responsible for approximately 99% of the Fanconi anemia group C mutations common in the Ashkenazi Jewish population.


Reference Range
See Laboratory Report


Clinical Significance
Fanconi's Anemia is an autosomal recessive disease that causes patients to suffer bone marrow failure, congenital malformations, chromosomal instability, and increased risk of cancer. Approximately 1 in 87 individuals of Ashkenazi Jewish heritage are carriers. In this population, a single DNA mutation accounts for approximately 83%.


Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA
33608 Ortega Highway
San Juan Capistrano, CA 92675-2042




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.