Hereditary Hemochromatosis DNA Mutation Analysis

Hereditary Hemochromatosis DNA Mutation Analysis

Test Code

35079
81256
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
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.
35079
81256
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
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.
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection may be available in your area for purchase through Quest Mobile.

Clinical Significance

Hereditary Hemochromatosis DNA Mutation Analysis - 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.

Test Resources

Test FAQ

Hereditary Hemochromatosis DNA Mutation Analysis

Test Details

Methodology

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

Assay Category

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.

Reference Range(s)

See Laboratory Report

Alternative Name(s)

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

LOINC® Codes, Performing Laboratory

Service Area must be determined

Methodology

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

Reference Range(s)

See Laboratory Report

Alternative Name(s)

Hemochrom HFE Gene Analysis, Blood,C282,H63D,HFE,Hemochromatosis Hereditary DNA,HLA-H
Service Area must be determined

Preferred Specimen(s)

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

Alternative Specimen(s)

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

Minimum Volume

3 mL

Collection 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. If submitting with a CBC, HbA1c or any other testing requiring an EDTA (lavender-top) tube, please submit a separate tube for this test.

Transport Container

EDTA (lavender-top) tube

Transport Temperature

Room temperature

Specimen Stability

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

Reject Criteria

Received frozen

Setup Schedule

Service Area must be determined
5 mL whole blood collected in an EDTA (lavender-top) tube
ACD solution A (yellow-top) tube • ACD solution B (yellow-top) tube
3 mL
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. If submitting with a CBC, HbA1c or any other testing requiring an EDTA (lavender-top) tube, please submit a separate tube for this test.
EDTA (lavender-top) tube
Room temperature
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Received frozen
Service Area must be determined
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection may be available in your area for purchase through Quest Mobile.
Test Details

Clinical Significance

Test Resources

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.

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