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

[Chang, Elizabeth]

Hi Mike,

Thank you for your comment.  You are right, the low coverage of these two genes is due to other regions homologous to them.  It is the limit of NGS technology.  I will take them off the list and add STAT1 and XIAP.

Kindest regards!

Elizabeth (Yenhui)



From: Keller, Michael [mailto:MKeller at childrensnational.org]
Sent: Monday, October 21, 2013 9:10 PM
To: CIS-PIDD
Subject: RE:[cis-pidd] A Gene Panel for PID Testing by NGS

Hi Elizabeth,

I'm sure that this is old news, but both IKBKG and NCF1 have pseudogenes, making direct gDNA sequencing pretty unhelpful.  Unless you are sequencing cDNA, you might as well leave them out.

Have you looked into adding STAT1 and XIAP?

Best regards,
Mike


-------------------------

Michael D. Keller MD

Division of Allergy / Immunology

Children's National Health System

111 Michigan Ave NW, Room 1W-314B

Washington, DC 20010

Ph: 202.476.5843

Fax: 202.476.2280

www.childrensnational.org<http://www.childrensnational.org>



________________________________
From: Chang, Elizabeth [Elizabeth.Chang at allkids.org]
Sent: Monday, October 21, 2013 4:37 PM
To: CIS-PIDD
Subject: [cis-pidd] A Gene Panel for PID Testing by NGS

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


CONFIDENTIALITY NOTICE: This E-mail message, including any attachments, is for the sole use of intended recipient(s) and may contain confidential and privileged information. Any unauthorized review, use, disclosure or distribution is prohibited. If you are not the intended recipient, please contact the sender by reply E-mail and destroy all copies of the original message and its attachments without reading or saving in any manner. Thank you xxvii

---

The CIS-PIDD listserv is supported by:

[http://www.clinimmsoc.org/UserFiles/image/cis-pidd-list-logo_v1.jpg]
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org<mailto:info at clinimmsoc.org>

Not a member of CIS? Please visit www.clinimmsoc.org<https://cis.execinc.com/edibo/Signup> to join!

You are currently subscribed to cis-pidd as: mkeller at childrensnational.org<mailto:mkeller at childrensnational.org>.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=202536700.bba161e2ff9c9e1b35b1386869d41ea1&n=T&l=cis-pidd&o=43997795

---

The CIS-PIDD listserv is supported by:

[http://www.clinimmsoc.org/UserFiles/image/cis-pidd-list-logo_v1.jpg]
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org<mailto:info at clinimmsoc.org>

Not a member of CIS? Please visit www.clinimmsoc.org<https://cis.execinc.com/edibo/Signup> to join!

You are currently subscribed to cis-pidd as: Elizabeth.chang at allkids.org<mailto:Elizabeth.chang at allkids.org>.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=203479868.2c5c9e7c15b42083823d99ce933a1d9a&n=T&l=cis-pidd&o=43998553

CONFIDENTIALITY NOTICE: This E-mail message, including any attachments, is for the sole use of intended recipient(s) and may contain confidential and privileged information. Any unauthorized review, use, disclosure or distribution is prohibited. If you are not the intended recipient, please contact the sender by reply E-mail and destroy all copies of the original message and its attachments without reading or saving in any manner. Thank you xxvii

---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=44001713
or send a blank email to leave-44001713-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/pipermail/pagid/attachments/20131022/b8644517/attachment.html>