Hemochromatosis, HFE-Related
Time Collected:
Jun 10, 2022 10:37 AM
Name:
Dudart, Cornelius
Time Reported:
Jun 24, 2022 12:59 PM
Date of Birth: May 16, 1988
Status:
Final
Sex:
Male
Ordering Provider: BENKE, STANLEY
Patient Location:
CGY Alberta Children's Hospital
Clinicians Copied:
Accession Number: 22GS-164G00044
Specimen Type/Source: Blood / Blood
Order Comment:
Reason for Referral
Confirmation of diagnosis (patient has signs or symptoms of the disease/disorder)
HFE Result
C282Y/H63D
Interpretation
COMPOUND HETEROZYGOSITY FOR THE c.845G>A (p.Cys282Tyr) AND c.187C>G (p.His63Asp) PATHOGENIC
VARIANTS IN THE HFE GENE WAS DETECTED.
Only in the presence of the biochemical markers (elevated transferrin saturation and ferritin)
and/or clinical features of HFE-related hereditary hemochromatosis (HFE-HH) is this result
consistent with a diagnosis of HFE-HH. This result does not confirm a diagnosis of HFE-HH in the
absence of the biochemical markers and clinical features. There is a low risk of developing the
clinical and biochemical features of HFE-HH. Elevated ferritin alone is not adequate for a
diagnosis of HFE-HH. Referral for genetic counselling is advised and genetic testing is available
for family members.
Methodology
HFE-related hereditary hemochromatosis (HFE-HH) is an autosomal recessive disorder caused by
pathogenic variants (mutations) in the HFE gene. The c.845G>A (p.Cys282Tyr; aka C282Y) and
c.187C>G (p.His63Asp; aka H63D) pathogenic variants are known to account for the majority of
patients of Northern European ancestry. Eighty-seven percent of affected individuals are
homozygous or compound heterozygous for the p.Cys282Tyr pathogenic variant. Targeted pathogenic
variant analysis is performed by an allelic discrimination assay (TaqMan) to detect only the
p.Cys282Tyr and p.His63Asp pathogenic variants. Variants are described according to HGVS
nomenclature using the cDNA transcript NM_000410.3.
Management guidelines are available through the Alberta Toward Optimized Practice website
(http://www.topalbertadoctors.org/cpgs.php?sid=18&cpg_cats=82).
For further information about hemochromatosis, see the HFE-associated Hemochromatosis brochure
located at http://www.albertahealthservices.ca/assets/wf/lab/wf-lab-gls-guid-hereditaryhemochromatosis.pdf
This report is confidential. To ensure the privacy of your information, please protect this report, and share with only appropriate
health services providers. This report is not a substitute for the advice of a qualified health services professional, nor is it intended
to represent an assessment of your overall well-being. Please contact your health services provider for any questions about your
results.
Dudart, Cornelius
Page 1/2
Hemochromatosis, HFE-Related
Disclaimer
This test was developed and its performance determined by Genetics & Genomics, Alberta Precision
Laboratories. While tests that are laboratory developed may not have Health Canada approval, they
are used for clinical purposes. The laboratory, which is accredited by the College of Physicians
and Surgeons of Alberta (CPSA), has validated or verified this test pursuant to CPSA
requirements.
All DNA test results are dependent upon accurate clinical diagnoses from referring physicians.
Rare diagnostic errors can result from incorrectly assigned family relationships (e.g. nonpaternity), genotyping errors, sequence polymorphisms, sample errors or contamination (e.g.
maternal cells in fetal samples). Interpretations are based on current scientific knowledge and
are subject to change. This report may not be copied or reproduced, except in its totality.
__
Results in table format will not display properly in downstream systems. Please refer to original
report from Connect Care.
Geneticist Signature
Jillian Parboosingh PhD FCCMG
Molecular Geneticist
Molecular Genetics Lab, Genetics & Genomics
Alberta Children's Hospital site
This report is confidential. To ensure the privacy of your information, please protect this report, and share with only appropriate
health services providers. This report is not a substitute for the advice of a qualified health services professional, nor is it intended
to represent an assessment of your overall well-being. Please contact your health services provider for any questions about your
results.
Dudart, Cornelius
Page 2/2