Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Order Display Name: Geisinger Epic Procedure Code Or ID CPT Code:  

HFE MUTATION ANALYSIS, PCR

ORDERING INFORMATION:
Geisinger Epic Procedure Code: LAB2460         Geisinger Epic ID: 45317

SPECIMEN COLLECTION
Specimen type:
Whole blood
Preferred collection container:
Specimen required:
3 mL lavender-top EDTA whole blood; minimum 0.5 mL. No shared specimens with other laboratory departments. May be combined with other Molecular Diagnostic tests. For genetic testing, original tube required.
Special notes:
  1. Mix well immediately.
  2. Isolated/extracted nucleic acids are acceptable only from CLIA-certified laboratories or a laboratory meeting equivalent requirements as determined by CAP and/or CMS.

SPECIMEN PROCESSING
Specimen processing instructions:
Do not centrifuge. 
Transport temperature:
Refrigerate (2-8°C).
Specimen stability:
Refrigerated: 7 days.
Rejection criteria:
Stability limits exceeded. Shared or comingled specimens.

TEST DETAILS
Reference interval:
Negative.
Interpretation guide:
Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism that results in iron overload and potential organ failure. It is one of the most common genetic disorders in individuals of European-Caucasian ancestry with an estimated carrier frequency of 10%. HH is caused by mutations in the HFE gene. Most individuals with HH (60-90%) are homozygous for the C282Y mutation. A smaller percentage of affected individuals are either compound heterozygous for the C282Y and H63D mutations (3%-8%), or homozygous for the H63D mutation (about 1%). This assay detects the two mutations in the HFE gene, C282Y (NM_000410.2: c.845G>A) and H63D (NM_000410.2: c.187C>G) that are commonly associated with HH. The mutations are detected by multiplex polymerase chain reaction (PCR) amplification and MassARRAY MALDI-TOF mass spectrometry (Agena Bioscience). This assay does not detect other mutations in the HFE gene that may cause HH. Since genetic variation and other factos can affect the accuracy of direct mutation testing, these results should be interpreted in light of clinical and familial data.
Additional information:
For genetic testing, original tube required.
CPT code(s):
81256
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.  The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.
Test includes:
HFE gene testing, H63D and C282Y
Methodology:
MassARRAY MALDI-TOF mass spectrometry
Synonyms:
HLA-H, HFE, Hereditary Hemochromatosis, C282Y, H63D, HEREDITARY HEMOCHROMATOSIS DNA TEST
HFEDNA
Clinical significance:
Hereditary Hemochromatosis (HH) is an inherited disorder resulting in excess iron accumulate in the body. This test confirms HH diagnosis in patients with abnormal iron studies, and identifies at-risk individuals.
Doctoral Director(s:)
Yi Ding MD, PhD    
Review Date: 11/22/2020

Performing Locations

Geisinger Medical Center

Performing laboratory: Molecular Diagnostics
Technical Lead: Lisa Scicchitano
Frequency: Weekly
Performed stat? No
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