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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
"blood samples"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kallmann syndrome
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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