Comparison of Direct and Indirect Genetic Diagnosis

Direct genetic diagnosis is used whenever possible. Its major limitation is that
the disease-producing mutation(s) must be known if one is to test for them. If
a family carries a mutation not currently documented, as in the family above
with LCAD deficie cy, it will not be detected by direct mutation testing. In these
cases, indirect genetic testing can be used. A comparison of the key features of
direct and indirect genetic diagnosis is summarized in Table II-6-1.
Table II-6-1. Key Features of Indirect and Direct Genetic Diagnosis
Indirect
Diagnosis
Direct
Diagnosis
Family information needed Yes No
Errors possible because of recombination Yes No
Markers may be uninformative Yes No
Multiple mutations can be assayed with a single test Yes No
Disease-causing mutation itself must be known No Yes
APPLICATIONS OF GENETIC DIAGNOSIS
Genetic diagnosis is used in a variety of settings, including the ones listed below.
Carrier diagnosis in recessive diseases
Presymptomatic diagnosis for late-onset diseases
Asymptomatic diagnosis for diseases with reduced penetrance
Prenatal diagnosis
Preimplantation testing
Prenatal Genetic Diagnosis
Prenatal diagnosis is one of the most common applications of genetic diagnosis.
Diagnosis of a genetic disease in a fetus may aid in making an informed decision
regarding pregnancy termination, and it often aids parents in preparing
emotionally
and medically for the birth of an affected child. There is a variety of types of
prenatal diagnosis.