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So got my Hereditary hemochromatosis result back. Apparently I have one mutation for it, but it takes 2 for it to be significant from what my Dr told me.



[TABLE="class: components, width: 808"]

[TR]

[TH="bgcolor: #006BA6, align: left"]COMPONENT[/TH]

[TH="bgcolor: #006BA6, align: left"]YOUR VALUE[/TH]

[TH="bgcolor: #006BA6, align: left"]STANDARD RANGE[/TH]

[TH="bgcolor: #006BA6, align: left"]FLAG[/TH]

[/TR]

[TR="class: odd"]

[TD="class: nameCol srchbl"]HEMOCHROMATOSIS RESULT[/TD]

[TD="class: valueCol"]One Mutation detected (C282Y)[/TD]

[TD="class: rangeCol"][/TD]

[TD="class: flagCol"][/TD]

[/TR]

[TR="class: tableRowMessage comments odd"]

[TD="class: srchbl, colspan: 4"]DNA MUTATION ANALYSIS

RESULT: HETEROZYGOUS FOR THE C282Y MUTATION

INTERPRETATION: DNA testing indicates that this

individual is positive for one copy of the C282Y

mutation in the HFE gene. This individual is negative

for the H63D mutation. Individuals with this genotype

may have elevated serum transferrin iron saturation

levels. This result reduces the likelihood that this

individual is affected by hereditary hemochromatosis

(HH). However, it does not rule out the presence of

other mutations within the HFE gene or a diagnosis of

HH. The risk of this individual carrying a HFE

mutation other than those tested in this assay depends

greatly on family and clinical history as well as

ethnicity. This assay does not test for other primary

or secondary iron overload disorders. Consider genetic

counseling and DNA testing for at-risk family members.



Hereditary hemochromatosis (HH) is an autosomal

recessive disorde

r 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 (approximately 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, followed by digestion of

the amplification products with the restriction enzymes

Rsal and NlaIII, for the detection of the C282Y and

H63D mutations respectively. Fluorescent-labeled

restriction fragments are detected by ca

pillary

electrophoresis.

This assay does not detect other mutations in the HFE

gene that can 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.[/TD]

[/TR]

[/TABLE]


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