Diagnosis of hereditary hemochromatosis cannot be based on the results of a genetic test alone because
A) the disease is non penetrant.
B) genetic tests are untrustworthy.
C) the disease is genetically heterogeneic.
D) the disease is not inherited.
E) the genotype changes as a person ages, especially in women.

Question

Quizplus · Accepted Answer

Hereditary hemochromatosis is an autosomal recessive disorder with variable penetrance, meaning not all individuals with the genetic mutation will express the disease phenotype. Therefore, a genetic test alone cannot confirm the presence of the disease without considering clinical symptoms and other diagnostic tests.

Diagnosis of Hereditary Hemochromatosis Cannot Be Based on the Results