[CIS PIDD] [cis-pidd] A Gene Panel for PID Testing by NGS
Chang, Elizabeth
Elizabeth.Chang at allkids.org
Tue Oct 22 19:25:29 EDT 2013
Dear Fabian,
Thank you for the suggestion. I will include these genes on my next panel.
Best regards,
Yenhui
From: Fabian Hauck [mailto:fabian.hauck at med.uni-muenchen.de]
Sent: Tuesday, October 22, 2013 4:18 AM
To: CIS-PIDD
Cc: CIS-PIDD
Subject: Re: [cis-pidd] A Gene Panel for PID Testing by NGS
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<mailto: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<mailto: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
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