No-Cost Genetic Test Program for Blue Cone Monochromacy
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Why be tested?
If you have a clinical diagnosis of Blue Cone Monochromacy, there are many reasons to test your DNA:
- to have a genetic confirmation of the clinical diagnosis, as clinical diagnosis is often very difficult to reach;
- to understand how the disease spreads within your own family and what are the chances of passing the disease to your children;
- to help scientific research to find all the possible genetic mutations that lead to the disease; this is of fundamental importance to improve the diagnostic tests themselves – to make them accurate and complete;
- for diseases such as Blue Cone Monochromacy, for which gene therapies are being developed, it is important for the patient to know his causative mutation, in order to know if he will be able to have access to that therapy.
The lack of an accurate diagnosis can have far-reaching consequences for patients and their families and for the entire BCM community. If you do not reach the true accurate diagnosis of a rare pathology such as Blue Cone Monochromacy, you cannot support the path toward the cure and identify your global community to achieve together the cure of the genetic disease, given that gene therapies can be different for each gene and also for each causative mutation.
Program Overview
The No-Cost Genetic Testing Program for Blue Cone Monochromacy provides no-cost genetic testing for individuals with a clinical diagnosis of Blue Cone Monochromacy. Targeted familial variant testing is also available to female relatives of individuals who receive a positive result through the program and meet certain criteria.
This testing Program is supported by the BCM Families Foundation, a nonprofit organization dedicated to find a cure for Blue Cone Monochromacy. The genetic testing is performed at the Dr. Bernd Wissinger’s Lab, University of Tübingen, Germany.
The efficiency of the test in this Program is very high, greater than 90%, because the Wissinger’s Lab continuously updates the list of BCM causative mutations, is able to find all known BCM causative mutations and to perform differential diagnosis with other diseases showing similar clinical features, for example Achromatopsia, Bornholm Eye Disease, Cone Dystrophy. This efficiency is unique and is not found in other laboratories which on the contrary might not test for all BCM causative mutations and therefore could report a null response.
The aim of this program for the BCM Families Foundation is to enlarge inclusion and promote equity to the access to the genetic diagnosis of Blue Cone Monochromacy. The high cost of the test at the very few laboratories that offer it and the lack of information create barriers especially for the most socio-economically disadvantaged individuals, precluding inclusion and diversity in diagnosis.
To support the Program you may donate here, if you are able and wish to do so.
The only cost to patients is the cost of extracting blood samples and sending them to the laboratory.
Genes and Causative mutations
X-Chromosome: genes OPN1LW, OPN1MW and the upstream Locus Control Region (LCR)
BCM is a rare genetic disease of the retina caused by genetic mutations on genes OPN1LW, OPN1MW and the upstream Locus Control Region (LCR). These genes are located on the X chromosome and encode proteins called photopigments, needed in the red and green cones to capture light.
Find more information here.
Here you have a summary of Blue Cone Monochromacy causative mutations and percentage of affected people from the 2024 aggregate data of the BCM Patient Registry:
Data are reported in the BCM Registry 2024 Poster.
Criteria For Test
Participants who undergo genetic testing with the Program must meet these criteria:
- No geographical restrictions
- Have a clinically confirmed diagnosis of Blue Cone Monochromacy and a family Pedigree
- All patients with the genetic confirmation of Blue Cone Monochromacy are encouraged to enroll in the BCM Patient Registry at www.BCMRegistry.org
Female relatives who want to test their carrier status must meet these criteria:
- No geographical restrictions
- Have a blood relative tested through the Program who received an informative positive genetic testing result for Blue Cone Monochromacy
- Being age 18+
- Have a family Pedigree
- Targeted testing will be available to X-linked females in the family but not to obligated carriers – that is daughters of an affected male.
Criteria For Clinicians ordering the test
Be willing to join the BCM Registry at www.BCMRegistry.org and validate diagnosis of their patients inside the Registry. Find more information about the BCM Patient Registry here, and in the BCMRegistry-Flyer-2020.
Instruction on how to send the blood sample for the DNA test.
SPECIMEN REQUIREMENTS
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 be cooled. 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 send: signed consent forms for each individual (for minors we would require the signature of both parents), family’s Pedigree, medical examination reports 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.
SHIPMENT INSTRUCTIONS
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 sending the blood samples please contact our families association at info@bcmfamilies.org
When declaring a blood sample for international shipment, it may now also be necessary to declare a so-called HS-code, which is 30029010 for human blood samples.
A guide on how to send the blood samples from USA:
Forms:
Summary
- The No-Cost genetic testing Program for Blue Cone Monochromacy is an open access, no-cost program for patients with a clinical diagnosis of Blue Cone Monochromacy.
- Patients with a clinical diagnosis of Blue Cone Monochromacy can be included in the program.
-
Females age 18+ with an affected relative previously tested can test their carrier status unless this female is the daughter of a BCM father, therefore an obligate carrier.
- The Program can help eliminate barriers experienced currently by the most socio-economically disadvantaged individuals who are not being diagnosed.
- The Program is supported by the BCM Families Foundation and by selected sponsors.
- The Wissinger Lab at the University of Tübingen in Germany is performing the tests and is able to find all possible Blue Cone Monochromacy causative mutations.
- All patients with the genetic confirmation of Blue Cone Monochromacy are encouraged to enroll in the BCM Patient Registry at www.BCMRegistry.org
Clinical and Research Laboratory
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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 Hospital Tübingen – Molecular Genetics Laboratory |
University Hospital Tübingen – Molecular Genetics Laboratory BCM Project |
Contact: Susanne Kohl, MSc, PhD Email: susanne.kohl@uni-tuebingen.de Phone: (+49) 70712980702 FAX: (+49) 7071295725 |
Other laboratories able to test the DNA for BCM
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Here you have other laboratories, not included in the Program, that perform the DNA test for BCM:
| Europe 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 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 |
Molecular Vision Laboratory web page
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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 |
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US – CLIA Approved National Eye Institute Ophthalmic Genomics Laboratory (OGL) |
Contact: Bin Guan, PhD, FACMG Email: bin.guan@nih.gov Lab Email: NEIOGL@nih.nei.gov Phone: 301-594-0029 Website: https://www.nei.nih.gov/research/research-labs-and-branches/ophthalmic-genomics-laboratory
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To Learn more
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For an introduction to the problem of genetic testing read the following articles:
- Genetic Testing for Inherited Eye Disease: Why, How, and Who
- Recommendations for Genetic Testing of Inherited Eye Diseases
- The National Organization of Rare Disorders (NORD) – Why-should-I-get-genetic-testing-if-I-already-have-a-diagnosis
Sponsors
No-Cost genetic diagnosis project is supported in 2024 by funds of Konecta SpA received through Associazione Acromati Italiani onlus.
