Try these sites for labs offering diagnostic testing for Menkes. Nina
Horn's lab in Denmark is given in the second link.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=565
http://www.genetests.org/query?testid=207297
Barry
Barry Sampson
Principal Biochemist and Honorary Lecturer
Trace Element Laboratory
Clinical Chemistry
Charing Cross Hospital & Imperial College School of Medicine London W6
8RF UK
Phone +44-020-8383 3644
Fax +44-020-8846-7007
-----Original Message-----
From: Clinical biochemistry discussion list
[mailto:[log in to unmask]] On Behalf Of John Kane
Sent: Thursday, December 30, 2004 1:43 PM
To: [log in to unmask]
Subject: Menkes Disease
We received an enquiry about the possibility of Menkes disease in a
baby.
Serum copper concentration is below the lower limit of normal (according
to textbook range for neonate) and serum ceruloplasmin concentration is
below the limit of detection of our immunoassay method.
Any help with answers to the following questions would be much
appreciated:
1 What are biochemical diagnostic criteria (serum or other) in a baby?
2 Is genetic analysis worth considering?
3 If worth being considered, does anyone in the UK offer genetic testing
for
this condition?
Thank you in advance for your help.
Best Wishes
John Kane
Mr. John Kane
Clinical Biochemistry Dept
Hope Hospital
Salford
M6 8HD
Tel. 0161 206 4374
Fax. 0161 788 7443
Email [log in to unmask]
Website :- http://www.johnsgarden.co.uk/
------ACB discussion List Information--------
This is an open discussion list for the academic and clinical
community working in clinical biochemistry.
Please note, archived messages are public and can be viewed
via the internet. Views expressed are those of the individual and
they are responsible for all message content.
ACB Web Site
http://www.acb.org.uk
List Archives
http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html
List Instructions (How to leave etc.)
http://www.jiscmail.ac.uk/
------ACB discussion List Information--------
This is an open discussion list for the academic and clinical
community working in clinical biochemistry.
Please note, archived messages are public and can be viewed
via the internet. Views expressed are those of the individual and
they are responsible for all message content.
ACB Web Site
http://www.acb.org.uk
List Archives
http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html
List Instructions (How to leave etc.)
http://www.jiscmail.ac.uk/
|