Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?

An adult diagnosed with Asperger syndrome (AS) has a genetic test that reveals a SNP in the GABRB3 gene that is significantly more common in people with AS than the general population.

Key Concepts

Prognostic vs. Diagnostic Testing

Prognostic tests are designed to predict the likelihood of developing a disease or the likely course of an existing disease, while diagnostic tests are used to confirm or rule out a specific condition. Understanding the distinction is crucial for interpreting genetic test results, as it informs whether the test is assessing risk or confirming a diagnosis.

Single Nucleotide Polymorphism (SNP)

A Single Nucleotide Polymorphism (SNP) is a variation at a single position in a DNA sequence among individuals. SNPs can be associated with various traits or diseases, making them important in genetic testing. In the context of the question, the SNP in the GABRB3 gene is linked to Asperger syndrome, highlighting its relevance in understanding genetic predispositions.

GABRB3 Gene and Asperger Syndrome

The GABRB3 gene encodes a subunit of the GABA receptor, which is involved in inhibitory neurotransmission in the brain. Variations in this gene have been studied for their potential association with neurodevelopmental disorders, including Asperger syndrome. Recognizing the role of specific genes helps in interpreting the implications of genetic test results in relation to behavioral and cognitive traits.