posted 12-10-2002 02:45 PM         

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Dear Sirs
We have a couple who have a son with Treachar Collins Syndrome, and they want have more children. Therefore, I would like to know if you can help me to find the Laboratory which performs the molecular diagnosis of this condition.

Thank you in advance
Yours sincerely


MT Lourenço MD
Seerviço de Genética Médica
Hospital Egas Moniz
1300 Lisboa-PORTUGAL
e-mail addres:terjea@mail.telepac.pt or
genclin@hegasmoniz.min-saude.pt

IP: 160.45.191.21

posted 12-17-2002 04:50 PM            

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After searching the Treacher-Collins syndrome
in the Rare diseases data base (www.orpha.net), I came up with a lab. in Rome that does the diagnose you formerly refered to:
Person(s) responsible:
Sig Dr Mario BENGALA
Sig Pr Giuseppe NOVELLI
Name of the service:
Laboratorio di Genetica Medica - Dipartimento di Biopatologia e Diagnostica per
Address :
Università degli Studi "Tor Vergata"
Via Montpellier 1
00133 ROMA
ITALIA
Phone :
06 72596080 - 06 20900664
Fax :
06 20427313 - 06 20900669
I hope to have been helpful in this matter.

Best Regards
Daniel Osório
daniel@bioquimica.online.pt

IP: 212.113.164.100

posted 01-14-2003 02:13 PM            

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I believe Professor Mike Dixon at Manchester University, who identified the TCOF gene, has transferred mutation screening on a service basis to the Regional Genetics Service at St Marys Hospital, Manchester, UK.
See www.cmgs.org and look up the DNA lab at St Marys Hospital for contact details.

IP: 193.60.159.61

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