Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population.
[canavan disease]
The
purpose
of
this
study
was
to
determine
analytic
performance
of
laboratories
offering
molecular
testing
for
conditions
such
as
Tay-
Sachs
disease
,
Canavan
disease
,
and
familial
dysautonomia
,
which
are
prevalent
in
the
Ashkenazi
Jewish
population
.
The
College
of
American
Pathologists
and
the
American
College
of
Medical
Genetics
and
Genomics
cosponsor
molecular
proficiency
testing
for
these
disorders
.
Responses
from
2006
to
2013
were
analyzed
for
accuracy
(
genotyping
and
interpretations
)
.
Between
11
and
36
laboratories
participated
in
each
Tay-
Sachs
disease
distribution
.
Samples
tested
per
month
were
constant
(
2
,
900
)
from
2006
to
2011
but
recently
increased
.
Participants
reporting
<
10
samples
tested
per
month
had
longer
turnaround
times
(
42
vs
.
7
%
,
longer
than
14
days
;
P
=
0
.
03
)
.
Analytic
sensitivity
and
specificity
for
US
participants
were
97
.
2
%
(
95
%
confidence
interval
:
94
.
7
-
98
.
7
%
)
and
99
.
8
%
(
95
%
confidence
interval
:
99
.
1
-
99
.
9
%
)
,
respectively
.
Of
11
genotyping
errors
,
2
were
due
to
sample
mix-up
.
Analytic
interpretations
were
correct
in
99
.
3
%
of
challenges
(
956
/
963
;
95
%
confidence
interval
:
98
.
5
-
99
.
7
%
)
.
Better
performance
was
found
for
Canavan
disease
and
familial
dysautonomia
.
International
laboratories
performed
equally
well
.
These
results
demonstrated
high
analytic
sensitivity
and
specificity
along
with
excellent
analytic
interpretation
performance
,
confirming
the
genetics
community
impression
that
laboratories
provide
accurate
test
results
in
both
diagnostic
and
screening
settings
.
Proficiency
testing
can
identify
potential
laboratory
issues
and
helps
document
overall
laboratory
performance
.