This test is not recommended for asymptomatic patients under 18 years of age.
Reference Interval
C282Y Negative: The patient is negative for the HFE C282Y mutation.
H63D Negative: The patient is negative for the HFE H63D mutation.
S65C Negative: The patient is negative for the HFE S65C mutation.
Interpretive Data
Background information for Hemochromatosis (HFE) 3 Mutations: Characteristics: Disorder of iron metabolism resulting in excessive iron storage leading to increased skin pigmentation, arthritis, hypogonadism, diabetes mellitus, heart arrhythmias/failure, cirrhosis and liver carcinoma. Incidence: One in 300 individuals of Northern European descent; unknown in other ethnicities. Inheritance: Autosomal recessive. Penetrance: 5% of C282Y homozygotes, 1% of C282Y/H63D compound heterozygotes and rare H63D homozygotes develop clinical symptoms. Cause: Two pathogenic HFE gene mutations on opposite chromosomes. Mutations Tested: p.C282Y (c.845G>A), p.H63D (c.187C>G), and p.S65C (c.193A>T).Clinical Sensitivity: 85% of hereditary hemochromatosis in Northern Europeans is caused by C282Y homozygosity and 5% by C282Y/H63D compound heterozygosity. Methodology: PCR and fluorescence monitoring. Analytical Sensitivity and Specificity: 99%. Limitations: HFE mutations, other than those targeted, will not be detected. Rare diagnostic errors may occur due to primer site mutations.
Informed consent is required by NYSDOH for genetic testing. Consent forms are available online.
CPT Codes
81256
LOINC Mapping
34519-9
Order Type (Individual or Group)
G
Group Test Information
Result Test ID
Reportable
Result Test Name
Result Type
Type (Alpha or Numeric)
C282Y
Y
C282Y(c.845g>aA)
I
A
H63D
Y
H63D(c.187C>G)
I
A
S65C
Y
S65C(c.193A>T)
I
A
INTHF
Y
INTERPRETATION,HFE
I
N
REVHF
Y
REVIEWED BY:
I
A
Reflex Test ID
The following tests are always reflexed on .
Result Test ID
Reportable
Result Test Name
Result Type
Type (Alpha or Numeric)
PTCST
Y
PATIENT CONSENT
I
A
PDATE
Y
CONSENT FORM/DISCARD DATE
I
A
RRHFE
Y
HFE REVIEW
I
A
CPT Codes
81256
LOINC Mapping
34519-9
Pricing
Refer to Lab Account Manager. email: labservicesoutreach@urmc.rochester.edu
Specimen Requirements
Collect
4mL whole blood in EDTA (lav top). 0.5mL or >100K nucleated cells minimum
This test is not recommended for asymptomatic patients under 18 years of age.
Result Interpretation
Reference Interval
C282Y Negative: The patient is negative for the HFE C282Y mutation.
H63D Negative: The patient is negative for the HFE H63D mutation.
S65C Negative: The patient is negative for the HFE S65C mutation.
Interpretive Data
Background information for Hemochromatosis (HFE) 3 Mutations: Characteristics: Disorder of iron metabolism resulting in excessive iron storage leading to increased skin pigmentation, arthritis, hypogonadism, diabetes mellitus, heart arrhythmias/failure, cirrhosis and liver carcinoma. Incidence: One in 300 individuals of Northern European descent; unknown in other ethnicities. Inheritance: Autosomal recessive. Penetrance: 5% of C282Y homozygotes, 1% of C282Y/H63D compound heterozygotes and rare H63D homozygotes develop clinical symptoms. Cause: Two pathogenic HFE gene mutations on opposite chromosomes. Mutations Tested: p.C282Y (c.845G>A), p.H63D (c.187C>G), and p.S65C (c.193A>T).Clinical Sensitivity: 85% of hereditary hemochromatosis in Northern Europeans is caused by C282Y homozygosity and 5% by C282Y/H63D compound heterozygosity. Methodology: PCR and fluorescence monitoring. Analytical Sensitivity and Specificity: 99%. Limitations: HFE mutations, other than those targeted, will not be detected. Rare diagnostic errors may occur due to primer site mutations.
Informed consent is required by NYSDOH for genetic testing. Consent forms are available online.
Coding
CPT Codes
81256
LOINC Mapping
34519-9
URM Labs Internal
Test Build
Order Type (Individual or Group)
G
Group Test Information
Result Test ID
Reportable
Result Test Name
Result Type
Type (Alpha or Numeric)
C282Y
Y
C282Y(c.845g>aA)
I
A
H63D
Y
H63D(c.187C>G)
I
A
S65C
Y
S65C(c.193A>T)
I
A
INTHF
Y
INTERPRETATION,HFE
I
N
REVHF
Y
REVIEWED BY:
I
A
Reflex Test ID
The following tests are always reflexed on .
Result Test ID
Reportable
Result Test Name
Result Type
Type (Alpha or Numeric)
PTCST
Y
PATIENT CONSENT
I
A
PDATE
Y
CONSENT FORM/DISCARD DATE
I
A
RRHFE
Y
HFE REVIEW
I
A
CPT Codes
81256
LOINC Mapping
34519-9
Pricing
Refer to Lab Account Manager. email: labservicesoutreach@urmc.rochester.edu
