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Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.
[primary hyperoxaluria type 1]
To
test
for
specific
mutations
in
the
alanine
:
glyoxylate
aminotransferase
(
AGT
)
gene
,
in
order
to
diagnose
primary
hyperoxaluria
type
1
(
PH
1
)
.
Samples
of
liver
and
/
or
DNA
from
81
patients
were
submitted
to
our
laboratory
for
diagnostic
testing
for
PH
1
.
Using
a
panel
of
selected
mutations
,
DNA
was
examined
in
64
cases
,
of
which
36
had
the
diagnosis
of
PH
1
confirmed
by
liver
AGT
assay
.
DNA
sequencing
was
employed
if
mutation
testing
revealed
only
one
mutation
.
Identification
of
100
%
of
the
mutations
in
the
AGT
-confirmed
samples
led
to
the
development
of
a
focused
testing
panel
currently
involving
4
common
mutations
,
7
mutations
recurring
at
lower
frequency
and
5
with
apparent
ethnic
associations
.
This
mutation
panel
alone
would
have
identified
the
two
causative
mutations
in
64
%
of
the
PH
1
samples
.
Diseases
Validation
Diseases presenting
"hyperoxaluria"
symptom
cystinuria
neonatal adrenoleukodystrophy
primary hyperoxaluria type 1
This symptom has already been validated
