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.
Genetic Testing Access for Every Child
To discover treatment for KIF1A Associated Neurological Disorder (KAND), it is vital to identify every individual 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 individual has access to this expensive genetic test. If you know somebody with an undiagnosed disease that may be KAND who can’t afford Whole Exome Sequencing, please contact us. We’ll find a way to get every individual tested.