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/

 

 

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