[PAGID] XLA carrier detection

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

Hi Mary-Ellen,
Its be a while. I hope all is well with you. This is an excellent 
family. I know we could get the index patient, the sister who is 
interested and the mother. I am pretty sure that we can get the other 
sister as well. The affected first cousin is problematic and lives 
several hundred miles away, I doubt that we could get him. Would it work 
for you to receive four specimens and then work them up as you choose?
Richard

Conley, Mary-Ellen wrote:


>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.

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>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

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>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

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