Medical Genetics - V. M. Zaporozhan 2005

Diagnostic Methods for Hereditary Diseases
Molecular Genetic Methods (DNA Diagnostics)
Starting Material for DNA Diagnostics

Any nucleated Cells are used for molecular genetic Diagnostics.

For diagnosing Hereditary diseases, Blood (leukocytes) is most commonly used, and less frequently — buccal scrapings or Hair follicles.

For prenatal Diagnosis, chorionic villus sampling (obtaining the chorionic membrane), placentocentesis (obtaining placental tissue), amniocentesis (obtaining Amniotic Fluid and isolating cells from it), and cordocentesis (obtaining umbilical cord blood) are performed.

For preimplantation diagnosis, a blastomere or polar body is used.

For personal identification in forensic medicine, any Tissues are used (bloodstains, Skin, semen, etc.), while blood is used to establish biological relationships using genomic fingerprinting Methods.

For diagnosing infectious diseases, vaginal and urethral scrapings, bronchopulmonary washes, blood, and pathogen cultures are used.

For diagnosing oncological diseases, Cytology/practical/86.html">Red Bone Marrow (in leukemia), etc., is utilized.

For diagnosing mitochondrial disorders, a Muscle biopsy is the primary source of DNA.



Last update: 11/08/2026

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