Adamtsl4-related eye disorders
Diagnosis and Testing
How do I get tested for ADAMTSL4-related eye disorders?
Your eye doctor can do an examination on your eyes and test your vision to see if you have any of the symptoms of an ADAMTSL4-related eye disorder. If you do, you can have genetic testing to look for changes in the ADAMTSL4 gene. This testing will read the gene from start to finish to see if there are any spelling mistakes. This is called sequencing the gene. This test is very good at finding changes in the ADAMTSL4 gene. It can find almost 100% of all spelling mistakes that are present in the gene.
References
More Diagnosis and Testing Content
Is there newborn testing for ADAMTSL4-related eye disorders?
Who else in my family should I test for ADAMTSL4-related eye disorders?
Does it matter if you test blood vs. saliva vs biopsy for ADAMTSL4-related eye disorder?
Is there newborn testing for ADAMTSL4-related eye disorders?
Unless a change in the ADAMTSL4 gene was already found in another family member, newborns are not tested for ADAMTSL4-related eye disorders. If you or someone in your family has an ADAMTSL4-related eye disorder and want genetic testing for your newborn, talk to your doctor about setting it up. It may be possible to do testing before the baby is born (prenatal testing) or after, depending on when you want the information.
References
Who else in my family should I test for ADAMTSL4-related eye disorders?
Siblings of a person with an ADAMTSL4-related eye disorder should see an eye doctor to get checked for the same disorder. This can either be done by a complete eye examination or by genetic testing. The person already known to have the disorder should have genetic testing first to find the exact changes in ADAMTSL4 causing their symptoms. Then, other family members can be tested for the same changes.
References
Does it matter if you test blood vs. saliva vs biopsy for ADAMTSL4-related eye disorder?
You should not need an eye biopsy to find the genetic changes in ADAMTSL4. A blood test or salvia sample would be able to identify genetic changes in the ADAMTSL4 gene.
References
Is genetic testing or an eye examination better at finding ADAMTSL4-related eye disorders in family members?
If the gene changes that are causing an ADAMTSL4-related eye disorder in the family are known (by genetic testing of a person with the condition), genetic testing is probably better. This is because the symptoms of these disorders can be very different in each family member, and so it may be hard to pick up by eye examination alone. Genetic testing for the same gene changes as the person with the disorder will be much better at telling family members their risk for eye problems.
