[PAGID] XLA carrier detection

[Conley, Mary-Ellen]

Hi Richard,
We still do mutation detection for Btk as part of our research studies.
We don't charge for it but we need a motivated family and a motivated
physician.  Because we have been referred families in which the initial
dx was incorrect, we require blood from an affected male on a scheduled
date.  In some families this can cause problems.

There are a couple of companies that do mutation detection: Correlagen
and GeneDX.  I think they charge about $2000-$2500.  I am not sure about
insurance.  I think there are other options too.  I would be interested
in other labs that people have been happy with.
Mary Ellen






Mary Ellen Conley, MD
Department of Immunology
St. Jude Children's Research Hospital
332 N. Lauderdale
Memphis, TN 38105-2794
FAX  901-495-3977
TEL  901-495-2576


-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Richard L.
Wasserman, M.D.,Ph.D.
Sent: Wednesday, October 03, 2007 9:45 PM
To: Pagid list serve
Subject: [PAGID] XLA carrier detection

The sister of an XLA patient (agammaglobulinemia with and X-linked
family history) who has never been genotyped is interested in knowing if
she is a carrier. What is the least expensive way to approach this
question?
Richard Wasserman
Dallas