Chromosome Analysis, DEB Assay for Fanconi Anemia

Test code

14598

CPT code(s)*

88230, 88249

**CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.

In-home collection is not available in your area through Quest Mobile.

Clinical significance

Chromosome Analysis, DEB Assay for Fanconi Anemia - This assay is a first-line screening test for patients with clinical suspicion of Fanconi anemia, an inherited disorder that causes chromosomal instability [1]. This test is not used to evaluate carrier status for Fanconi anemia or for prenatal testing.Fanconi anemia is a multigenic and primarily autosomal recessive disorder caused by pathogenic variants that affect DNA repair. Populations with increased carrier frequencies for 1 or more of these pathogenic variants include individuals of Ashkenazi Jewish, Afrikaner, sub-Saharan African, Roma, or South Asian (Indian and Pakistan) descent [1]. Clinical manifestations of…

Test resources

Test FAQ

Chromosome DEB Assay for Fanconi anemia

Details

Test details

Methodology

Chromosome Breakage (DEB) • Tissue Culture

Specimen requirements
Patient preparation	None Specified
Preferred specimen(s)	10 mL whole blood collected in a sodium heparin (green-top) tube Infants: 3 mL whole blood collected in a pediatric (3 mL) vacutainer
Alternative specimen(s)	Whole blood collected in: sodium heparin (royal blue-top) tube, or sodium heparin lead-free (tan-top) tube
Minimum volume	2 mL
Collection instructions	Clinical history and reason for referral are required with test order. Note: Diagnostic test only. This test will not detect carriers of a Fanconi anemia gene mutation. This test may be canceled and replaced by: Chromosome Analysis, Blood, No Growth, if the specimen does not yield mitotically active cells for analysis; or with a Cytogenetics Communication, if a communication is required.
Transport temperature	Room temperature
Specimen stability	Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.

Reference range(s)

See Laboratory Report

LOINC® codes

The Result and LOINC® information listed below should not be used for electronic interface maintenance with Quest Diagnostics. Please contact the Quest Diagnostics Connectivity Help Desk for more information at 800-697-9302.

NOTE: The codes listed in the table are not orderable Test Codes

Result code	Result name	LOINC code	Component name
85998484	Chrom Assay Fanconi Anemia	34742-7	Chromosome breakage

Performing lab & setup schedule

Performing laboratory

Quest Diagnostics Nichols Institute
14225 Newbrook Drive
Chantilly, VA 20153

Setup schedule

Set up: Daily; Report available: 14 days

Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

*The CPT codes provided are based on AMA guidance and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

This material contains content from LOINC® (http://loinc.org). The LOINC Table, LOINC Table Core are copyright © 1995-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license.

The tests listed by specialty and category are a select group of tests offered. For a complete list of Quest Diagnostics tests, please adjust the filter options chosen, or refer to our Directory of Services.