Family Nurse Practitioner Exam

What is the role of genetic testing in diagnosing Fragile X syndrome?

1. To confirm the presence of depression

2. To identify physical abnormalities

3. To provide a definitive diagnosis

4. To rule out all other disorders

The correct answer is: To provide a definitive diagnosis

The role of genetic testing in diagnosing Fragile X syndrome is primarily to provide a definitive diagnosis. Fragile X syndrome is caused by a mutation in the FMR1 gene on the X chromosome, leading to intellectual disabilities and various behavioral and developmental challenges. Genetic testing allows healthcare providers to analyze the presence of this specific mutation. When the mutation is identified, it confirms the diagnosis of Fragile X syndrome, facilitating appropriate interventions and support for affected individuals and their families. Other approaches, such as evaluating physical abnormalities or assessments for symptoms of depression, may offer insight into a patient’s condition but do not provide the definitive confirmation that genetic testing does. Likewise, while ruling out other disorders might be part of a comprehensive evaluation, identifying the genetic cause directly links to the diagnosis of Fragile X syndrome itself.