[PAGID] XLA carrier detection

[Richard L. Wasserman, M.D.,Ph.D.]

Thanks, Chuck.
Richard

Charles.Kirkpatrick at UCHSC.edu wrote:


>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

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