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Diagnostic genetics at a distance: von hippel-lindau disease and a novel mutation.
[von hippel-lindau disease]
Genetic
testing
at
a
distance
is
commonplace
where
members
of
a
family
with
a
segregating
germline
mutation
are
geographically
separated
.
For
the
most
part
,
this
challenge
is
addressed
through
the
intervention
of
health
professionals
in
taking
and
/
or
processing
blood
samples
for
subsequent
couriering
of
DNA
to
a
referral
laboratory
.
In
some
circumstances
,
however
,
the
collecting
of
pivotal
clinical
material
may
involve
direct
patient
involvement
.
We
describe
such
a
situation
where
noninvasive
saliva
samples
were
provided
by
members
of
a
family
manifesting
Von
Hippel-
Lindau
(
VHL
)
disease
.
The
analysis
identified
a
novel
mutation
in
the
VHL
gene
that
was
used
to
exclude
other
family
members
as
being
at
risk
of
VHL
disease
.
Diseases
Validation
Diseases presenting
"mutation in the vhl gene"
symptom
von hippel-lindau disease
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