The Atypical HUS Foundation

GENETIC Testing

Important NOTE:

USA law protects Americans from discrimination in health insurance and employment with the 

Genetic Information Nondiscrimination Act (GINA) of 2008.

NIH – National Human Genome Research Institute:  an overview and resources regarding the Genetic Information Nondiscrimination Act of 2008.

(See below for an excerpt.)

Here are some USA labs that offer genetic screening for atypical HUS patients and their families.  For information on genetic testing facilities in other nations, please contact the aHUS Alliance at info@aHUSAlliance.org. 

BloodCenter of Wisconsin

BloodCenter of Wisconsin, a pioneer in diagnostics, offers a comprehensive laboratory panel for evaluation of patients with thrombotic microangiopathy (TMA) in 28 days, including a rapid genetic evaluation to support diagnosis of Atypical Hemolytic Uremic Syndrome (aHUS).

“BloodCenter of Wisconsin’s comprehensive panel for the evaluation of aHUS improves patient care by allowing confirmation of the clinical diagnosis, facilitating the screening of family members at risk, and possibly directing therapeutic decisions.”
Kenneth Friedman, MD
Medical Director,
Hemostasis Reference Laboratory
 

For questions please contact:
Client Services
Phone: 800-245-3117, ext. 6250
Fax: 414-937-6206
E-mail: LabInfo@bcw.edu 

FMI see their site's detailed listing for the BloodCenter of Wisconsin.


Cincinnati Children’s Hospital Medical Center

Cincinnati Children’s Hospital Medical Center offers a broad platform of molecular and cellular diagnostic testing for thrombotic microangiopathies (TMA), including atypical hemolytic uremic syndrome (aHUS) and thrombotic thrombocytopenia purpura (TTP).  Test results are incorporated in a customized summary, where clinical information is incorporated with the genetic, biochemical and functional test results.

Cincinnati Children’s has board-certified pediatric nephrologists, hematologists, molecular geneticists and genetic counselors to provide telephone or email consultations to referring physicians regarding test selection, clinical interpretation, medical management and follow-up testing, genetic counseling, and additional studies of at-risk family members

General Contact Information for Cincinnati Children’s:

Phone:  513-636-4530                       Fax:  513-636-8924            Email:  nephclinicallab@cchmc.org

 

Contact the thrombotic microangiopathy team: 

Dr. Ralph A. Gruppo          Director, Comprehensive Hemophilia and Thrombosis Center

Phone:  513-636-4269                                       Email:  ralph.gruppo@cchmc.org

Dr. Bradley P. Dixon

Phone:  513-636-4531                                       Email:  bradley.dixon@cchmc.org

FMI see our site's detailed listing for 

Cincinnati Children’s Hospital Medical Center

 

Machaon Diagnostics

Machaon Diagnostics is a specialty bleeding and clotting clinical reference laboratory running the fastest testing in the country for thrombotic microangiopathies (TMA).

We offer a 24-hour turnaround time for ADAMTS-13 testing used to diagnose thrombotic thrombocytopenia purpura (TTP) and our aHUS Genetic Panel™ has a 48 hour turnaround time. This test is sometimes used by clinicians to confirm their clinical diagnosis of atypical hemolytic uremic syndrome (aHUS).  

Machaon Diagnostics provides this aHUS testing to doctors and hospitals all over the country and can provide draw kits with pre-paid shipping upon request. Each report from Machaon Diagnostics comes with the direct phone number of our medical director who has significant experience with TMAs.

General Contact Information for Machaon Diagnostics:

3023 Summit Street

Oakland, CA 94609

Phone:  510-839-5600                       Fax:  510-839-6153           

Email:  lab@machaondiagnostics.com

FMI see our site's detailed listing for Machaon Diagnostics

MORL - aHUS Genetic Testing

Molecular Otolaryngology and Renal Research Laboratories (MORL) are recognized nationally and internationally for their expertise in the area of complement-mediated renal diseases and as leaders in genetic testing for deaf and hard-of-hearing persons.

MORL is associated with the Rare Renal Disease and Renal Genetics Clinic at the University of Iowa serves as a national referral center by providing evaluation and management services for children and adults with membranoproliferative glomerulonephritis type I, atypical hemolytic uremic syndrome, dense deposit disease and C3 glomerulonephritis, in addition to inherited renal diseases such as Fabry’s disease, nephronophthisis, polycystic kidney disease and congenital diseases of the kidney.

**aHUS Biomarker – Longitudinal Study**

announced Aug. 2015 by MORL, the University of Iowa. Click HERE for details, and contact them at

AHUS-STUDY@uiowa.edu

General Contact Information for MORL:

Phone:  319-335-6623            Fax:    319-353-5869           Email: amy-weaver@uiowa.edu

 

For More Information Contact:

Dr. Richard JH Smith       Director, MORL

Phone:  319- 356-3612                       Email:  richard-smith@uiowa.edu

FMI see our site's detailed listing for MORL, at the University of Iowa.

 

USA law protects Americans from discrimination in health insurance and employment with the Genetic Information Nondiscrimination Act (GINA) of 2008.

NIH – National Human Genome Research Institute:  an overview and resources regarding the Genetic Information Nondiscrimination Act of 2008.

Excerpt from the NIH site:

“Many Americans fear that participating in research or undergoing genetic testing will lead to them being discriminated against based on their genetics. Such fears may dissuade patients from volunteering to participate in the research necessary for the development of new tests, therapies and cures, or refusing genomics-based clinical tests. To address this, in 2008 the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination in the workplace and by health insurance issuers. In addition, there are other legal protections against genetic discrimination by employers, issuers of health insurance, and others.”

Link:  http://www.genome.gov/10002077/

 

 

IN REGARD TO MEMBERSHIP REQUESTS

To ensure proper processing of your membership, please make sure to set your email filters to accept emails, from info@atypicalhus.org.

The Atypical HUS Foundation is an all-volunteer organization. Please allow at least 72 hours for an email response confirming your membership request.  If you do not receive an email, please check your spam folder or email directly to info@atypicalhus.org

Membership is open to patients, family, friends, caregivers research and medical personnel.

WELCOME - JOIN US!

The Atypical HUS Foundation encourages patients and investigators to share information and explore options/resources as we work together to gain insight into this rare complement disorder. By increasing contact opportunities with researchers and medical personnel interested in helping the aHUS community, our stories foster a better understanding of atypical hemolytic uremic syndrome.

Sharing information, inspiration and support for one another, we seek to gather together people and knowledge as we strive to improve the lives of patients and families dealing with a diagnosis of aHUS.


NEW DIAGNOSIS OF aHUS?
Be proactive! Get the medical basics of aHUS, what lab values to monitor, and areas of concern...check out the "aHUS Bootcamp" and "About aHUS" tabs at the top of this page!
If your doctor has never treated a case of aHUS, please print out our 'Doc to Doc Registry' and ask him/her to contact a physician versed in the complexities of aHUS and new options for 2011 genetic testing and treatment.

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NOTE: Our 'Send a Message" function on each Member's page allows for private discussion of personal content. As with any social network, be cautious about giving personal contact information (home email info, phone number) until you have an established relationship with another person, organization, or associated website.

 

Did you know...

CFH (Serum Complement Factor H) is a regulatory protein. The secreted protein product of CFH consists of 20 repetitive units named "short consensus repeats" or SCRs (each approximately 60 amino acids). In patients with aHUS the last 5 "pearls" in the twenty pearl strand protein, SCR16 - SCR20, should bind to protect cells but do not- they are defective in one or more of the last 5 SCR locations. If they cannot bind or stick to the kidney to protect that tissue, the platelets clump into clots that affect the glomeruli of the kidney -potentially causing acute renal failure.
  
• • • • • • • • • • • •
  
It is estimated that there are about 2 cases of aHUS in the U.S. per 1,000,000 of population, and about 60% of aHUS patients are diagnosed as children. The condition is potentially life threatening, and either can be chronic or can recur at intervals.
  
more factoids...

Help us fight the battle

Your donation of $295.for an aHUS pearl bracelet will directly fund research to help aHUSpatient and their families. Each bracelet has an appraised value of $925, and is offered with your gift of $295. Note:  For shipping outside the USA, please add $25. to cover international shipping costs.

(Note: Bracelets do not qualify as tax deductible donations under IRS regulations.)

Normally, aHUS pearl bracelets to be made-to-order and as such expect a 4 to 6 week window before your custom bracelet is shipped.  In a rush?  Contact info@atypicalhus.org with your request and details.

 

 Donations of a specific dollar amount are welcome-every dollar will help aHUS research efforts supported by The Atypical HUS Foundation at www.atypicalhus.org.


Donations may be made via credit card or Paypal. If you prefer, checks made payable to The Atypical HUS Foundation may be mailed to:

The Atypical HUS Foundation
C/O Deborah Lewis
PO Box 333
Barnhart, MO 63012


For pearl bracelet orders, please allow extra time for processing checks. Questions about aHUS donations? Please email info@atypicalhus.org

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