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Diagnostic Tests for Genetic Disease

Diagnostic tests for Genetic Disease:

Genetic tests can determine whether or not a person has the disease, even as early as in the fetus by antenatal testing for genetic diseases.

Genetic Disease: Diagnostic Tests

The list of diagnostic tests mentioned in various sources as used in the diagnosis of Genetic Disease includes:

Tests and diagnosis discussion for Genetic Disease:

Once a diagnosis is made, laboratory studies may be available to provide some or all of the following:

  • Prenatal testing to identify an affected fetus to assist in family planning.

  • Newborn screening to spot a condition that may become evident later in life.

  • Carrier testing to identify adults who, without symptoms, carry a genetic mutation for a disease.

  • Predictive testing to spot people at risk for developing a genetic connective tissue disease later in life. These tests are helpful for diseases that run in the family.

(Source: excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS)

Diagnosis of Genetic Disease: medical news summaries:

The following medical news items are relevant to diagnosis of Genetic Disease:


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