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

[Fabian Hauck]

Dear Elisabeth,
are you planing to include CID genes (ITK, LCK, STK1, IL21R, etc.) as well?
Best wishes,
Fabian Hauck
Dr von Hauner University Children Hospital
Munich, Germany

Von meinem iPhone gesendet


> Am 22.10.2013 um 08:52 schrieb Laia Alsina Manrique de Lara <lalsina at hsjdbcn.org>:

> 

> Dear Elisabeth, 

> Adding STAT1, XIAP and DOCK8 would be very important. Also maybe LRBA. 

> The samples that we could send you, do they have to have confirmed genetic results for you to validate, or just a very defined phenotype but no genetic diagnosis?

> How much blood do you need? Or how much DNA?

> I would be interested in sending you 6-8 samples from patients with a very defined phenotype but still no genetic diagnosis.

> 

> Thank you,

> 

> Laia Alsina MD, PhD

> Allergy and Clinical Immunology Department

> Hospital Sant Joan de Deu,

> Barcelona 

> 

> 

>> El 21/10/2013, a las 23:27, "Chang, Elizabeth" <Elizabeth.Chang at allkids.org> escribió:

>> 

>> 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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