Hereditary Hemochromatosis DNA Mutation Analysis

Test Code

HCHROMA

Quest Code

35079

Alias/See Also

35079

Alternative Name(s)

HLA-H
HFE
Hemochrom HFE Gene Analysis Blood
Hemochromatosis Hereditary DNA
H63D
Hemochromatosis
C282

CPT Codes
81256 (ZB0L5) **This test is not approved for New York patient testing. For New York patient testing, use test code 36193** (ZBOL5)

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

3 mL

Other Acceptable Specimens

ACD solution A (yellow-top) tube • ACD solution B (yellow-top) tube

Instructions

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

Extracted DNA: Please call 1-866-GENE-INFO (1-866-436-3463) for additional information.

Transport Temperature

Room temperature

Specimen Stability

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

Methodology
Fluorescent Restriction Fragment Length Polymorphism • Polymerase Chain Reaction (PCR)

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

Monday-Saturday

Report Available

Reports in 8 days from receipt at QNI lab

Reference Range

See Laboratory Report

Clinical Significance

Hereditary Hemochromatosis is an autosomal recessive disease that results in an abnormal build-up of iron in the body. The C282Y and H63D are among the most common mutations in patients with hereditary hemochromatosis. Penetrance of the mutations (phenotypic disease), including by individuals with compound heterozygous mutations, is variable.

Performing Laboratory
Quest Diagnostics Nichols Institute
33608 Ortega Hwy
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.