What condition did the case discussed by the candidate focus on?

Prepare for the Genetic Counseling Graduate School Interview Test with quizzes, flashcards, and comprehensive explanations. Enhance your readiness and perform your best!

The case discussed by the candidate focused on Type 2 Gaucher disease, a rare genetic disorder resulting from a deficiency in the enzyme glucocerebrosidase. This condition leads to the accumulation of certain fatty substances in the body, which primarily impacts the spleen, liver, bone marrow, and nervous system.

Type 2 Gaucher disease is characterized by neurological symptoms that appear in infancy and can result in severe complications, including cognitive decline and early death. In a genetic counseling context, understanding this condition is crucial for effective familial communication about risks, inheritance patterns, and potential interventions. This focus also aligns well with the objectives of genetic counseling, which aims to provide families with information about genetic conditions and their implications.

The other options, such as Down syndrome, breast cancer, and Alzheimer's disease, while important genetic counseling topics, do not pertain to the specific case highlighted by the candidate. Each of those conditions has its own unique genetic mechanisms, implications for counseling, and family concerns, but they differ significantly from the specifics of Type 2 Gaucher disease in terms of inheritance, symptom presentation, and prognosis.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy