7024. Karyotyping (blood, Prader-Willi/Angelman syndromes, GTG- and FISH-methods)

Karyotyping (GTG and FISH methods) for the diagnosis of Prader-Willi and Angelman syndromes – severe genetic disorders associated with deletions on chromosome 15. This test helps establish a timely diagnosis and determine further treatment.

Karyotyping using the GTG and FISH methods is a highly accurate cytogenetic test that enables the detection of microdeletion syndromes, particularly Prader-Willi syndrome (with the absence of regions on the parental chromosome 15) and Angelman syndrome (with a mutation or deletion on the maternal chromosome 15).

Both syndromes are accompanied by severe developmental disabilities:

• mental and motor developmental delays;
• congenital defects;
• behavioral disorders;
• eating disorders;
• epilepsy (especially in Angelman syndrome).

FISH allows visualization of the presence or absence of specific DNA regions on chromosome 15, ensuring diagnostic accuracy and speed.

The is aimed to:

• confirm clinical suspicion;
• determine the type of genetic error;
• clarify the prognosis and further treatment strategy;
• assess the risk of recurrence in the family.

Spousal karyotyping: male infertility, severe oligozoospermia, non-obstructive azoospermia, teratozoospermia, primary amenorrhea, first trimester recurrent miscarriage (two or more miscarriages), history of unexplained miscarriages, children with a chromosomal abnormality (eg, Down syndrome), childbirth with multiple congenital malformations (MVVR), IVF planning, unsuccessful IVF attempts, prognosis of the health of the unborn child, high risk of fetal chromosomal pathology based on the results of prenatal screening (ultrasound, biochemical, PRISCA).

Karyotyping of children: the presence of congenital malformations, mental retardation, delayed psychomotor development, delayed psychoverbal development in combination with a microanomaly, impaired or delayed sexual development, growth retardation, sex anomalies.

• Venous blood

In order to exclude factors that may affect the test results, we recommend to follow the preparation rules: