[PAGID] XLA carrier detection

[Charles.Kirkpatrick at UCHSC.edu]

Richard:

I was faced with a similar question a couple of years ago.  I called
Jennifer Puck at NIH and sent her a blood sample.  The lab identified
her as a carrier of a mutation in the common gamma chain.  This was
important later when she was pregnant.  Amniocentesis disclosed that the
fetus was female.

Jennifer is no longer at NIH. 

A few days ago, I got a mailing from the Diagnostic Center for Heritable
Immunodeficiencies at the Cincinnati Children's Hospital.  They offer
this test but don't give a price.  The phone number is 513 636 4474.

Chuck Kirkpatrick

-----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 8:45 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