Whole Exome Sequencing is a single test able to identify disease-causing variants across a person’s entire genetic landscape. Without this test, mutations in KIF1A are almost never identified, and patients are not diagnosed.
80% of rare diseases are caused by genetic anomalies. If everybody has access to Whole Exome Sequencing, hundreds of undiagnosed diseases will become treatable conditions with clinical answers.
To discover treatment for KIF1A Disorder, it is vital to identify every child who might have a variant in the KIF1A gene. More patients identified with KIF1A will encourage greater research efforts.
KIF1A.org works to guarantee every child has access to this expensive genetic test. If you know somebody with an undiagnosed disease who can't afford Whole Exome Sequencing, please contact us. We'll find a way to get every kid tested.
KIF1A.org partnered with 3billion, a lab dedicated to empowering millions of rare disease patients who are looking for answers. If your child needs Whole Exome Sequencing and insurance won't cover it, contact us. We'll make sure every family has access to this test.