Run 1x per week as needed, Tuesday or Thursday, day shift only
Methodology
PCR and allele-specific probes
Reported
7-10 days
Additional Information
The Cys282Tyr (G845A, C282Y) mutation in the HLA-H gene is found in 85% of the chromosomes of patients with Hereditary Hemochromatosis.
Homozygosity for the C282Y or compound heterozygosity for C282Y and H63D mutations is associated with increased risk of iron overload. Despite the high frequency of the C282Y mutation the clinical penetrance of the homozygous C282Y genotype is estimated to only be 1-4% (Beutler, BE, Blood 101:3347, 2003)
Heterozygosity or homozygosity for the H63D mutation does not appear to be clinically significant but may ben associated with elevated serum transferrin levels. (Gochee, et al., Gastroentroology 122:646, 2002)
Results are reported as "No Mutation Detected", "Heterozygous for Mutation" or "Homozygous for Mutation".
If a mutation is detected it is recommended that the patient seek genetic counseling.
Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
See also Iron, Transferrin and Transferrin Saturation and Iron, Liver.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
Cys282Tyr
G845A
C282Y
Hereditary Hemochromatosis
HFE mutation
HLA-H mutation
Sample Type
EDTA whole blood, CVS, Tissue culture
Collect
Lavender top, (Blue (citrate) and Yellow (ACD) tops acceptable)
Amount to Collect
3 mL blood
Preferred Volume
3 mL blood
Minimum Volume
0.1 mL blood
Remarks
If collecting in citrate, check the expiration date on the label of the blue top vacutainer before drawing the patient.
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Unacceptable Conditions
Samples collected in outdated blue top vacutainer.
Test Code
HHEM
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Preferred Volume
3 mL blood
Minimum Volume
0.1 mL blood
Unacceptable Conditions
Samples collected in outdated blue top vacutainer.
Reference Interval
No mutation detected.
Additional Information
The Cys282Tyr (G845A, C282Y) mutation in the HLA-H gene is found in 85% of the chromosomes of patients with Hereditary Hemochromatosis.
Homozygosity for the C282Y or compound heterozygosity for C282Y and H63D mutations is associated with increased risk of iron overload. Despite the high frequency of the C282Y mutation the clinical penetrance of the homozygous C282Y genotype is estimated to only be 1-4% (Beutler, BE, Blood 101:3347, 2003)
Heterozygosity or homozygosity for the H63D mutation does not appear to be clinically significant but may ben associated with elevated serum transferrin levels. (Gochee, et al., Gastroentroology 122:646, 2002)
Results are reported as "No Mutation Detected", "Heterozygous for Mutation" or "Homozygous for Mutation".
If a mutation is detected it is recommended that the patient seek genetic counseling.
Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
See also Iron, Transferrin and Transferrin Saturation and Iron, Liver.
CPT Codes
81256
LDT or Modified FDA
Yes
LOINC Codes
48577-1
Available Stat
No
Test Code
HHEM
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week as needed, Tuesday or Thursday, day shift only
Methodology
PCR and allele-specific probes
Remarks
If collecting in citrate, check the expiration date on the label of the blue top vacutainer before drawing the patient.
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top, (Blue (citrate) and Yellow (ACD) tops acceptable)
Amount to Collect
3 mL blood
Sample Type
EDTA whole blood, CVS, Tissue culture
Preferred Volume
3 mL blood
Minimum Volume
0.1 mL blood
Unacceptable Conditions
Samples collected in outdated blue top vacutainer.
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Reference Interval
No mutation detected.
Synonyms
Cys282Tyr
G845A
C282Y
Hereditary Hemochromatosis
HFE mutation
HLA-H mutation
Reported
7-10 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
The Cys282Tyr (G845A, C282Y) mutation in the HLA-H gene is found in 85% of the chromosomes of patients with Hereditary Hemochromatosis.
Homozygosity for the C282Y or compound heterozygosity for C282Y and H63D mutations is associated with increased risk of iron overload. Despite the high frequency of the C282Y mutation the clinical penetrance of the homozygous C282Y genotype is estimated to only be 1-4% (Beutler, BE, Blood 101:3347, 2003)
Heterozygosity or homozygosity for the H63D mutation does not appear to be clinically significant but may ben associated with elevated serum transferrin levels. (Gochee, et al., Gastroentroology 122:646, 2002)
Results are reported as "No Mutation Detected", "Heterozygous for Mutation" or "Homozygous for Mutation".
If a mutation is detected it is recommended that the patient seek genetic counseling.
Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
See also Iron, Transferrin and Transferrin Saturation and Iron, Liver.
CPT Codes
81256
LDT or Modified FDA
Yes
LOINC Codes
48577-1
Ordering
Available Stat
No
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week as needed, Tuesday or Thursday, day shift only
Methodology
PCR and allele-specific probes
Reported
7-10 days
Additional Information
The Cys282Tyr (G845A, C282Y) mutation in the HLA-H gene is found in 85% of the chromosomes of patients with Hereditary Hemochromatosis.
Homozygosity for the C282Y or compound heterozygosity for C282Y and H63D mutations is associated with increased risk of iron overload. Despite the high frequency of the C282Y mutation the clinical penetrance of the homozygous C282Y genotype is estimated to only be 1-4% (Beutler, BE, Blood 101:3347, 2003)
Heterozygosity or homozygosity for the H63D mutation does not appear to be clinically significant but may ben associated with elevated serum transferrin levels. (Gochee, et al., Gastroentroology 122:646, 2002)
Results are reported as "No Mutation Detected", "Heterozygous for Mutation" or "Homozygous for Mutation".
If a mutation is detected it is recommended that the patient seek genetic counseling.
Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
See also Iron, Transferrin and Transferrin Saturation and Iron, Liver.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
Cys282Tyr
G845A
C282Y
Hereditary Hemochromatosis
HFE mutation
HLA-H mutation
Collection
Sample Type
EDTA whole blood, CVS, Tissue culture
Collect
Lavender top, (Blue (citrate) and Yellow (ACD) tops acceptable)
Amount to Collect
3 mL blood
Preferred Volume
3 mL blood
Minimum Volume
0.1 mL blood
Remarks
If collecting in citrate, check the expiration date on the label of the blue top vacutainer before drawing the patient.
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Unacceptable Conditions
Samples collected in outdated blue top vacutainer.
Processing
Test Code
HHEM
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Preferred Volume
3 mL blood
Minimum Volume
0.1 mL blood
Unacceptable Conditions
Samples collected in outdated blue top vacutainer.
Result Interpretation
Reference Interval
No mutation detected.
Additional Information
The Cys282Tyr (G845A, C282Y) mutation in the HLA-H gene is found in 85% of the chromosomes of patients with Hereditary Hemochromatosis.
Homozygosity for the C282Y or compound heterozygosity for C282Y and H63D mutations is associated with increased risk of iron overload. Despite the high frequency of the C282Y mutation the clinical penetrance of the homozygous C282Y genotype is estimated to only be 1-4% (Beutler, BE, Blood 101:3347, 2003)
Heterozygosity or homozygosity for the H63D mutation does not appear to be clinically significant but may ben associated with elevated serum transferrin levels. (Gochee, et al., Gastroentroology 122:646, 2002)
Results are reported as "No Mutation Detected", "Heterozygous for Mutation" or "Homozygous for Mutation".
If a mutation is detected it is recommended that the patient seek genetic counseling.
Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
See also Iron, Transferrin and Transferrin Saturation and Iron, Liver.
Administrative
CPT Codes
81256
LDT or Modified FDA
Yes
LOINC Codes
48577-1
Complete View
Available Stat
No
Test Code
HHEM
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week as needed, Tuesday or Thursday, day shift only
Methodology
PCR and allele-specific probes
Remarks
If collecting in citrate, check the expiration date on the label of the blue top vacutainer before drawing the patient.
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top, (Blue (citrate) and Yellow (ACD) tops acceptable)
Amount to Collect
3 mL blood
Sample Type
EDTA whole blood, CVS, Tissue culture
Preferred Volume
3 mL blood
Minimum Volume
0.1 mL blood
Unacceptable Conditions
Samples collected in outdated blue top vacutainer.
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Reference Interval
No mutation detected.
Synonyms
Cys282Tyr
G845A
C282Y
Hereditary Hemochromatosis
HFE mutation
HLA-H mutation
Reported
7-10 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
The Cys282Tyr (G845A, C282Y) mutation in the HLA-H gene is found in 85% of the chromosomes of patients with Hereditary Hemochromatosis.
Homozygosity for the C282Y or compound heterozygosity for C282Y and H63D mutations is associated with increased risk of iron overload. Despite the high frequency of the C282Y mutation the clinical penetrance of the homozygous C282Y genotype is estimated to only be 1-4% (Beutler, BE, Blood 101:3347, 2003)
Heterozygosity or homozygosity for the H63D mutation does not appear to be clinically significant but may ben associated with elevated serum transferrin levels. (Gochee, et al., Gastroentroology 122:646, 2002)
Results are reported as "No Mutation Detected", "Heterozygous for Mutation" or "Homozygous for Mutation".
If a mutation is detected it is recommended that the patient seek genetic counseling.
Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
See also Iron, Transferrin and Transferrin Saturation and Iron, Liver.
