DNA Test

Here are the laboratories offering the DNA test for Blue Cone Monochromacy.

If you have a clinical diagnosis of BCM, there are many reasons to perform a DNA test, for example, to have a genetic confirmation of the diagnosis, to help scientific research to find all the possible genetic mutations that lead to disease, to know possible experimental therapies that often depend on the particular genetic mutation that you have.

The genetic confirmation is important because a patient with BCM needs to understand how the disease spreads within his own family and what are the chances of passing the disease to his children.

For an introduction to the problem of genetic testing please consult the website of the Foundation Fighting Blindness or read the following articles:

Genetic Testing for Inherited Eye Disease: Why, How, and Who

Recommendations for Genetic Testing of Inherited Eye Diseases

The laboratories that perform the DNA test can be clinical or research laboratories:

Clinical
A clinical laboratory examines specimens and reports results to healthcare providers for the purpose of diagnosis, prevention, or treatment. In the United States, laboratories performing clinical tests, the results of which can be used for treatment, must be CLIA (Clinical Laboratory Improvement Amendments) approved.

Research
A research laboratory examines specimens for the purpose of better understanding a medical condition and or developing a clinical test. Some research laboratories will obtain CLIA certification (in US) so their research findings can be shared with study participants.

To date, many genetic tests are carried out by research labs trying to discover the genes that cause disease and to explain their effect, to develop gene therapies or other treatments and explain the interaction between genetic and environmental causes.
For this reason, in the case of BCM, the BCM Families Foundation has chosen a research center as a reference center for the DNA test. Indeed, there are many genetic mutations that lead to the BCM, some are very difficult to diagnose, and not all clinical laboratories are able to identify them.

In addition, the BCM Families Foundation wants to promote the identification of all genes and all of the mutations that cause the disease, focusing research on genetic samples in a specialized center in Tübingen:

University Hospital Tübingen – Molecular Genetics LaboratoryUniversity Hospital TübingenMolecular Genetics Laboratory

BCM Project

Contact:
Susanne Kohl, MSc, PhD
Email: susanne.kohl@uni-tuebingen.de
Phone: (+49) 70712980702
FAX: (+49) 7071295725

Instruction on how to send the blood sample for the DNA test.

For the DNA test usually a laboratory needs 2×5 ml of venous blood for each individual, drawn in EDTA containers, that should be shipped by courier. Blood samples can be drawn by a local practitioner. For preservation of the blood samples, it is recommended the shipment under cooled conditions. Easiest way for that is to use a regular foam box with some cool packs. Blood samples should not be frozen, therefore please wrap the blood containers in some tissue before adding them to the foam box. In order to avoid dripping in case of breakage of the tubes it is recommended to wrap the tubes in a plastic casing.

With the blood samples it is usually requested to sent: signed consent forms for each individual (for minors we would require the signature of both parents), copy of identity documents for each individual, Family’s Pedigree, medical examination report and to fill and sign other forms reported needed for the export.

In some cases, the result arrives after 3-4 months, while in other cases more time is necessary.

Address where to ship the samples:

Dr. Susanne Kohl
Tel +49-7071-29-80702
E-mail: susanne.kohl@uni-tuebingen.de
Molekulargenetisches Labor
Universitätsklinikum Tübingen
Elfriede-Aulhorn-Str. 5-7 D-72076 Tübingen – Germany

Dr. B. Wissinger
E-mail: wissinger@uni-tuebingen.de

Before to send the blood samples please contact our families association at info@bcmfamilies.org

A guide on how to send the blood samples from USA:

Forms:

PATINFO_IRD_2018-DSGVO-engl-final
Commercial Invoice
Declaration

Other laboratories able to test DNA for BCM:

Europe
Radboud Medical Genetics Institute Route 848 PO box 9101 – 6500 HB Nijmegen The Netherland
DNA Test for Blue Cone MonochromacyContact:
University Medical Centre Nijmegen St Radboud
Department of Genetics, section Genome Diagnostics
Tel +31(0)24 36 13799
Fax +31(0)24 36 16658
E-mail: info@gdnm.nl
US – CLIA Approved
Molecular Vision Laboratory
Corporate Headquarters
1920 NE Stucki Ave, Suite 150
Hillsboro, OR 97006

 

503-227-3179
Fax: 503-227-3157
inquiry@mvisionlab.com

Molecular Vision Laboratory web page

 

Contact:
John Chiang, PhD, FACMG
Director, Molecular Vision Laboratory
1920 NE Stucki Ave, Suite 150
Hillsboro, OR 97006
Lab Tel: 503-227-3179
Cell: 503-8582674
Fax: 503-227-3157
Email: jchiang@mvisionlab.com
Website: www.molecularvisionlab.com
US – CLIA Approved
John and Marcia Carver Nonprofit Genetic Testing Laboratory University of Iowa
375 Newton Rd. 4111 MERF Iowa City, IA 52242
Carver Lab web site

 

Carver Lab doc

Contact:
Email: carverlab@uiowa.edu
Phone: 319-335-8270