General representations about the methods of examination in the medical genetics.

Date: 2015-10-07; view: 441.

THE BASIC THEORETICAL ITEMS OF INFORMATION

Ensembles of examination methods are used in the medical genetics. Methods that are the most often used to get a diagnosis:

- genealogical analysis (pedigree analysis).

- cytogenetic analysis. Kariotyping and examination of sex chromosome number.

- biochemical analysis. DNA analysis.

- dermatoglyphic maps method. Analysis of dermatoglyphics.

These methods are identified as postnatal. They are used to the examination of person after the birth.

Except these methods there are prenatal methods, which are used to the diagnostics of diseases before the birth:

- ultrasonic examination (ultrasonography).

- X-ray examination.

- examination of embryo's tissues, tissues of chorion, amnion and placenta, and amnion liquid. Amniocentesis.

To realization of exploratory purposes are used the methods:

- gemellary method or twins method (study of twins).

- methods of population genetics

According of their organization and of their purposes the genetic examination methods are divided to:

- screening tests

- methods of quantitative acknowledgement of personal diagnosis.

Screening tests are used to detect the early diagnosis within a determined group of population. For instance, there is the newborn screening for phenylketonuria (Guthri FKU test), for galactosemia (transferase assay), congenital hypothyroidism (T4, TSH determination).

Methods of quantitative acknowledgement of diagnosis are used for persons, selected by screening to programs; for persons, just turned to the physician-geneticist; for persons with the suspicion on the given disease. Applicable methods have greater accuracy.