Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.
[fabry disease]
In
view
of
the
therapeutic
benefits
resulting
from
early
intervention
for
Fabry
disease
,
our
team
has
implemented
an
enzyme-based
newborn
screening
in
Taiwan
since
2008
.
However
,
we
found
that
most
heterozygous
females
can
not
be
detected
.
To
improve
the
screening
efficiency
,
a
more
effective
method
for
GLA
gene
genotyping
is
necessary
.
As
the
suspected
mutations
are
limited
to
only
29
different
spots
in
Taiwanese
,
a
panel
of
Sequenom
iPLEX
assay
was
designed
for
rapid
screening
of
GLA
variations
.
To
determine
the
accuracy
and
sensitivity
of
this
assay
,
previously
diagnosed
and
undiagnosed
DNA
samples
were
analyzed
by
this
genotyping
assay
and
Sanger
sequencing
.
In
addition
,
DNA
extracted
from
dried
blood
spots
was
also
tested
.
Sequenom
iPLEX
assay
is
accurate
and
cost-effective
,
identifying
the
sequence
variations
,
which
were
designated
in
the
panel
.
It
identified
common
GLA
variants
in
DNA
samples
extracted
from
whole
blood
or
dried
blood
spots
with
100
%
accuracy
and
sensitivity
.
Sequenom
iPLEX
assay
is
suitable
for
Fabry
newborn
screening
when
hotspot
mutations
and
common
variations
are
known
in
a
well-studied
population
.
In
addition
,
this
assay
can
also
be
applied
for
first
-line
determination
of
GLA
variant
sequences
in
suspected
subjects
of
high
-risk
patients
,
or
newborns
.
Diseases
Validation
Diseases presenting
"suspected subjects of high-risk patients, or newborns"
symptom
fabry disease
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