Whole Exome Sequencing is a single test able to identify disease-causing changes (mutations, deletions, and duplications) across a person’s entire genetic landscape. Without this test, mutations in KIF1A are almost never identified, and patients remain undiagnosed.
80% of rare diseases are caused by genetic anomalies. If everybody has access to Whole Exome Sequencing, thousands of families with undiagnosed diseases will have treatment options and robust research initiatives.
Genetic Testing Access for Everyone
To discover treatment for KIF1A Associated Neurological Disorder (KAND), it is important to identify every individual who might have a disease-causing variant in the KIF1A gene. More patients identified with KIF1A will encourage greater research and development programs.
KIF1A.ORG works to guarantee every individual has access to this genetic test. If you know somebody with an undiagnosed disease who can’t access Whole Exome Sequencing, please contact us. We’ll find a way to get every individual tested.
Understanding your genetic report
Genetic reports are often filled with highly scientific jargon, making it difficult to understand. An example of a report is shared below. You can also watch a video description of this report here. Each section of the report shares different information and is addressed below.
How to read your report in sections:
- Test indication
- This information lists the patient’s symptoms of concern (delay, seizures, hypotonia, etc.)
- Gene
- This is the name of the gene where a mutation or variant was found (in our community it is KIF1A)
- Coding DNA
- This identifies what nucleotide changed and where the change happened
- In the example shown above, c.761 G>C means that at nucleotide location 761, nucleotide G should exist but instead has mutated to C
- It takes 3 nucleotides in a row to create 1 amino acid
- If you change a nucleotide, it will likely change the amino acid
- Variant
- This information tells you what amino acid was created by the mutated nucleotide
- In the example shown above, p.Arg254Pro means that Arginine (ARG) is the amino acid that should exist at amino acid location 254 but instead the mutation has created the Proline (Pro) amino acid.
- Amino acids tell the cells how to build the protein and how it should work
- The wrong amino acid can drastically change how the KIF1A gene works in our bodies and is why patient’s expereince spasticity, seizures, developmental delays, and many other symptoms.
- Zygosity
- This information is usually “Heterozygous” or “Homozygous”
- This indicates whether one or both alleles are affected by the mutation
- Everyone has 23 chromosomes. Each chromosome is created by one allele from the mom and one allele from dad.
- Heterozygous means the mutation is only found on one allele on that chromosome
- Homozygous means the mutation is found on both alleles of the chromosome
- Zygosity does not establish if this was an inherited mutation.
- That information requires the parents to be tested in order to determine if the mutation is “de novo” (new in this patient) or was inherited from either the mom or dad.
- Classification
- “Positive” (aka: “Likely Pathogenic” or “Pathogenic Variant”) means this variant is likely causing some or all of the patient’s symptoms
- “Unknown/Uncertain” (aka: “Variant of Unknown Significance”) means this variant may or may not be causing the patient’s symptoms
- this is referred to as a “Variant of Unknown Significance” (VUS for short)
- Patients require further testing and/or evaluation by an expert to determine if the variant is the cause of their symptoms or if further testing is needed.
- “Negative” (aka: “Likely Benign” or “Benign”) means this variant is likely not causing the patient’s symptoms)