[CIS PIDD] MVK gene sequencing or enzyme activity?

[Haines, Kathleen M.D.]

Labcorp does urinary mevalonate.  May be cheaper.
Kathleen A. Haines, MD


----- Original Message -----
From: raas0027 at umn.edu [mailto:raas0027 at umn.edu]
Sent: Friday, June 01, 2012 04:55 PM
To: pagid at list.clinimmsoc.org <pagid at list.clinimmsoc.org>
Subject: [CIS PIDD] MVK gene sequencing or enzyme activity?

I have a 9 year-old boy whose history and lab findings are convincing of
"hyper IgD" (HIDS) syndrome (HIDS; OMIM 260920).

Is anyone aware of a lab/institution who would do MVK gene sequencing or
mevalonate kinase enzyme activity on a research basis?

Commercial labs in the U.S. do the sequencing but it would be
cost-prohibitive for the family (their insurance will only pay a fraction
of the lab charges).

Thanks for your advice.

Have a great weekend.

-Jason

--
Jason Raasch, MD

Midwest Immunology Clinic
15700 37th Ave N
Suite 110
Plymouth, MN 55446

(Phone) 763.577.0008
(FAX)   763.5770192
*** HUMC's Proactive Security and Virus Scanner has scanned this email for
malicious content and it is safe to use***


******************************************************************************************************************************** Important news about our email communications. HackensackUMC has implemented secure messaging services. If you need assistance with retrieving a secure email, please send an e-mail to Postmaster at HackensackUMC.org ******************************************************************************************************************************** Confidentiality Notice: This e-mail message and any attachments from HackensackUMC are confidential and for the sole use of the intended recipient. This communication may contain Protected Health Information ("PHI"). PHI is confidential information that may only be used or disclosed in accordance with applicable law. There are penalties under the law for the improper use or further disclosure of PHI. If you are not the intended recipient of this e-mail or the employee or agent responsible for delivering the communication to the intended recipient, then you may not read, copy, distribute or otherwise use or disclose the information contained in this message. If you received this message in error, please notify us by telephone at 551.996.2000 or by e-mail to Postmaster at HackensackUMC.org Please indicate that you were not the intended recipient, and confirm that you have deleted the original message. Please do not retransmit the contents of the message. Thank you. ******************************************************************************************************************************** HackensackUMC is a nationally recognized healthcare organization offering patients the most comprehensive services, state-of-the-art technologies, and facilities. HackensackUMC has been named one of America's 50 Best Hospitals by HealthGrades for four years in a row. HackensackUMC is the only hospital in New Jersey, New York, and New England to receive this honor. The medical center has also been ranked by U.S. News and World Report's "America's Best Hospitals 2010-11" in Geriatrics and Heart & Heart Surgery. ********************************************************************************************************************************