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Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
[kallmann syndrome]
The
frequency
of
disease-related
large
rearrangements
(
referred
to
as
copy-number
mutations
,
CNMs
)
varies
among
genes
,
and
search
for
these
mutations
has
an
important
place
in
diagnostic
strategies
.
In
recent
years
,
CGH
method
using
custom-designed
high
-density
oligonucleotide-based
arrays
allowed
the
development
of
a
powerful
tool
for
detection
of
alterations
at
the
level
of
exons
and
made
it
possible
to
provide
flexibility
through
the
possibility
of
modeling
chips
.
The
aim
of
our
study
was
to
test
custom-designed
oligonucleotide
CGH
array
in
a
diagnostic
laboratory
setting
that
analyses
several
genes
involved
in
various
genetic
diseases
,
and
to
compare
it
with
conventional
strategies
.
To
this
end
,
we
designed
a
12
-
plex
CGH
array
(
135
k
;
135
 
000
probes
/
subarray
)
(
Roche
Nimblegen
)
with
exonic
and
intronic
oligonucleotide
probes
covering
26
genes
routinely
analyzed
in
the
laboratory
.
We
tested
control
samples
with
known
CNMs
and
patients
for
whom
genetic
causes
underlying
their
disorders
were
unknown
.
The
contribution
of
this
technique
is
undeniable
.
Indeed
,
it
appeared
reproducible
,
reliable
and
sensitive
enough
to
detect
heterozygous
single
-exon
deletions
or
duplications
,
complex
rearrangements
and
somatic
mosaicism
.
In
addition
,
it
improves
reliability
of
CNM
detection
and
allows
determination
of
boundaries
precisely
enough
to
direct
targeted
sequencing
of
breakpoints
.
All
of
these
points
,
associated
with
the
possibility
of
a
simultaneous
analysis
of
several
genes
and
scalability
'
homemade
'
make
it
a
valuable
tool
as
a
new
diagnostic
approach
of
CNMs
.
Diseases
Validation
Diseases presenting
"scalability"
symptom
kallmann syndrome
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