[CIS PIDD] [cis-pidd] A Gene Panel for PID Testing by NGS

[Chang, Elizabeth]

Thank you for the comment.  Yes, DOCK8 will be included in the next batch.

Kind regards,

Yenhui

From: Nacho Gonzalez [mailto:nachgonzalez at gmail.com]
Sent: Monday, October 21, 2013 5:05 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] A Gene Panel for PID Testing by NGS


Thank you very much for your kind offer. I'll contact you in a couple of weeks.
The list sounds good. The only "common" gene I do not see in the list and difficult for many labs is DOCK8. Do you plan to include it in the future?

Best regards,

Luis Ignacio Gonzalez Granado.
Immunodeficiencies.
Hospital 12 octubre. Madrid. Spain

Dear All,



I have been working on a gene panel to assist the diagnosis of Primary Immunodeficiency diseases using next generation sequencing (NGS) technology.  Please see attached gene list.  I would appreciate to hear your opinion about the panel and what other genes you would like to see included.  I have run 24 samples of known PID patient with good results.  We are seeking more PID samples for validation.  If you have any interesting samples we would be pleased to run them free of charge.  However, we need these by November 22nd, 2013.   You can mail samples to,



Dr. Yenhui Chang

Department of Pathology and Laboratory Medicine

All Children's Hospital

501 Sixth Avenue South

St. Petersburg, Florida 33701

Laboratory: 727-767-4976



The samples can be EDTA blood, DNA, or saliva.  I can provide saliva collecting kit.  Please include a brief description of the disease symptoms and a summary of lab test results.


Your opinion is highly appreciated.



Yenhui Chang


Yenhui Chang, MD, PhD, D.ABHI
Section Director, Histocompatibility and Immunogenetics
Department of Pathology and Laboratory Medicine
All Children's Hospital
Johns Hopkins Medicine
St. Petersburg, Florida 33701
 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
Office: 727 767 4230
Laboratory: 727 767 4976
Fax: 727 767 8367


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