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.

Children:

• With congenital malformations.
• In case of delayed psychomotor or speech development.
• With suspected Prader-Willi or Angelman syndrome (hypotonia in a newborn, sleep disturbances, characteristic behavior).
• In the presence of epilepsy, dysmorphic features, growth disorders, and delayed or abnormal sexual development.

Adults (for family planning):

• In case of the birth of a child with a similar pathology.
• In case of recurrent pregnancy loss.
• During preparation for IVF.
• In the presence of abnormalities in biochemical or ultrasound screening.

• Venous blood

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