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A pyrosequencing-based assay for the rapid detection of the 22q11.2 deletion in DNA from buccal and dried blood spot samples.
[22q11.2 deletion syndrome]
The
22
q
11
.
2
deletion
syndrome
is
one
of
the
most
common
deletion
syndromes
in
newborns
.
Some
affected
newborns
may
be
diagnosed
shortly
after
birth
because
of
the
presence
of
heart
defects
,
palatal
defects
,
or
severe
immune
deficiencies
.
However
,
diagnosis
is
often
delayed
in
patients
presenting
with
other
associated
conditions
that
would
benefit
from
early
recognition
and
treatment
,
such
as
speech
delays
,
learning
difficulties
,
and
schizophrenia
.
Fluorescence
in
situ
hybridization
(
FISH
)
is
the
gold
standard
for
deletion
detection
,
but
it
is
costly
and
time
consuming
and
requires
a
whole
blood
specimen
.
Our
goal
was
to
develop
a
suitable
assay
for
population-based
screening
of
easily
collectible
specimens
,
such
as
buccal
swabs
and
dried
blood
spots
(
DBS
)
.
We
designed
a
pyrosequencing
assay
and
validated
it
using
DNA
from
FISH-confirmed
22
q
11
deletion
syndrome
patients
and
normal
controls
.
We
tested
DBS
from
nine
patients
and
paired
buccal
cell
and
venous
blood
specimens
from
20
patients
.
Results
were
100
%
concordant
with
FISH
assay
results
.
DNA
samples
from
normal
controls
(
n
=
180
cell
lines
,
n
=
15
DBS
,
and
n
=
88
buccal
specimens
)
were
negative
for
the
deletion
.
Limiting
dilution
experiments
demonstrated
that
accurate
results
could
be
obtained
from
as
little
as
1
ng
of
DNA
.
This
method
represents
a
reliable
and
low
-cost
alternative
for
detection
of
the
common
22
q
11
.
2
microdeletions
and
can
be
adapted
to
high
-throughput
population
screening
.
Diseases
Validation
Diseases presenting
"early recognition"
symptom
22q11.2 deletion syndrome
cadasil
child syndrome
cowden syndrome
cushing syndrome
cystinuria
familial mediterranean fever
homocystinuria without methylmalonic aciduria
kindler syndrome
legionellosis
oligodontia
omenn syndrome
pyomyositis
thoracic outlet syndrome
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