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:

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.

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 of Tuebingen – Molecular Genetics Laboratory
University of Tuebingen Molecular Genetics Laboratory

BCM Project

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 case the result arrives after 3-4 months in other cases it need more time.

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:

Guide from USA by Jessica


Consent Form
Commercial Invoice

Other laboratories able to test DNA for BCM:

Radboud Medical Genetics Institute Route 848 PO box 9101 – 6500 HB Nijmegen The Netherland
DNA Test for Blue Cone Monochromacy Contact:
University Medical Centre Nijmegen St Radboud Genetics, Genomediagnostics
Tel: +31 (0)24 361 37 99 Fax: +31 (0) 24 361 66 58
Email: dna@umcn.nl
US – CLIA Approved
Molecular Vision Laboratory
Biomedical Research Building FL2
3181 SW Sam Jackson Park Rd. Portland, OR 97239-3098 USA
Molecular Vision Laboratory web page Contact:
Director: John (Pei-Wen) Chiang, PhD, FACMG – Director
Email: JChiang@mvisionlab.com
Phone: 503-227-3179 Fax 503-227-3157
US – CLIA Approved
John and Marcia Carver Nonprofit Genetic Testing Laboratory University of Iowa
Carver Lab web site

Carver Lab doc

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