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]