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  Carlo Gambacorti: DIAG: Neuroacanthocytosis/Accuracy in mol. gen. tests  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: Neuroacanthocytosis/Accuracy in mol. gen. tests
From: Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>
Date: Mon, 6 Nov 1995 09:56:17 MET-DST

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 2 submessage(s):

1)      Neuroacanthocytosis

2)      Accuracy in genetics molecular tests

  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics network
  Diagnostics/Clinical Research Section

NEUROACANTHOCYTOSIS patients sought for molecular genetic study

Scientists at the Wellcome Trust Centre for Human Genetics in
Oxford have initiated an international collaborative effort to
collect families with neuroacanthocytosis, both X-linked (McLeod
syndrome) and non-X-linked, for a systematic molecular study.
Blood or DNA samples from patients with McLeod syndrome will be
tested for mutations in XK, the Xp21.1 gene responsible, for a
genotype-phenotype correlation. Patients and families with
non-X-linked neuroacanthocytosis will be studied in a genome-wide
search for linkage. For further information please contact
Dr. A.P. Monaco at anthony.monaco@well.ox.ac.uk or
Dr. A. Danek at danek@brain.nefo.med.uni-muenchen.de.


At the upcoming Eurpean Society for Human Genetics meeting,  we are
hoping to organise a forum or discussion concerning quality control
issues for Clinical molecular Genetics testing.

It would be very helpful if interested parties could let me know if
they would like to attend and/or contribute to the debate.

I will post more details soon.


Graham R Taylor
GR Taylor PhD MRCPath
Head of Laboratory
Regional Clinical Molecular Genetics Lab
St James's University Hospital
'phone  113 283 7084
fax     113 267 7090
email gtaylor@hgmp.mrc.ac.uk


Headline: Doctors debate genetic tests accuracy
Wire Service: UPce (UPI Central US)
Date: Fri, Oct 27, 1995
   MINNEAPOLIS, Oct. 27 (UPI) -- Genetic testing for maladies such as
Alzheimer's disease have yet to prove their accuracy, a prominent medical
geneticist Thursday told a conference of about 600 of his colleagues.    Dr.
Neil Holtzman of Johns Hopkins Medical School, speaking during the annual
convention of American Society of Human Genetics in Minneapolis, said the
lack of standardized procedures and cross-checks between laboratories reduce
the value of DNA tests as medical tools.    Holtzman and others at the
conference said DNA tests are being marketed to the public for their
accuracy, even though false results still are common. The absence of
effective treatment for some diseases now being identified through the tests
also is a potential problem, the researchers said.    Holtzman said despite
the growing use of DNA tests to predict the likelihood of disease, they
should be only considered as  "investigational."    He said results of
genetic testing should not be relied upon unless doctors have some other
test to support those initial results.

  Copyright 1995 The United Press International

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