Geisinger Medical Laboratories Test Catalog

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

HFE MUTATION ANALYSIS, PCR

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%. The most common forms of HH are due to HFE gene mutation with homozygous for C282Y (60-90%) genotype. The C282Y heterozygote, H63D heterozygote and homozygote and H63D/S65C compound heterozygote genotypes may be associated with iron overload and increased transferrin saturation (TS) relative to the wild type in the general population. This assay detects the two most common mutations in the HFE gene, C282Y (NM_000410.4:c.845G>A) and H63D (NM_000410.4:c.187C>G). HFE S65C (NM_000410.4:c.193A>T), although less clinically significant in HH, is also covered in this test. The mutations are detected by multiplex polymerase chain reaction (PCR) amplification (Thermo Fisher). This assay does not detect other mutations in the HFE gene that may cause HH. Since genetic variation and other factors 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, C282Y, H63D, S65C.
Methodology:
Multiplex polymerase chain reaction (PCR)
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 accumulating 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: 12/20/2022

Performing Locations

Geisinger Medical Center

Performing laboratory: Molecular Diagnostics
Technical Lead: Ronnie Rovenolt, Becky Knock
Frequency: Weekly
Performed STAT? No
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