Rare Disease Diagnosis

Genetic Mutation Identification:

These tests aim to identify specific mutations or genetic variations associated with rare diseases.

Techniques such as DNA sequencing, including next-generation sequencing (NGS), are commonly used to analyze an individual’s genetic code.

Inherited and De Novo Mutations:

Genetic tests can determine whether a rare disease is caused by inherited mutations passed down from parents or by de novo mutations that occur spontaneously.

Targeted Testing vs. Whole Genome/Exome Sequencing:

Targeted testing focuses on specific genes known to be associated with a particular rare disease.

Whole genome sequencing (WGS) or whole exome sequencing (WES) involves analyzing the entire genome or the protein-coding regions, respectively, to identify novel or unexpected mutations.

Confirmation of Diagnosis:

Genetic testing can help confirm a clinical diagnosis when symptoms alone may not be sufficient for a definitive conclusion.

Patient Stratification:

Understanding the genetic basis of rare diseases allows for patient stratification, helping healthcare providers tailor treatments based on the underlying genetic factors.

Genetic Counseling:

Individuals undergoing genetic testing for rare diseases often benefit from genetic counseling to understand the implications of the results and to make informed decisions about treatment and family planning.

Research and Development:

Genetic testing contributes to ongoing research and the development of targeted therapies for rare diseases.