One of the fundamental diagnostic methods in medical genetics.
Classical Cytogenetic analysis
- Prenatal screening where there is an increased risk of numerical or structural chromosomal abnormalities.
- Recurrent miscarriages.
- Primary infertility.
- Neoplasms, especially the hematological ones.
- Deformed features that may correspond to a chromosomal syndrome with mental retardation of unknown etiology.
- Multiple congenital anomalies.
- Women with very short stature.
- A family history of structural chromosomal abnormalities.
- Gender differentiation disorders.
In many cases, cytogenetic analysis has assisted the physicians to make the correct diagnosis and treatment.
Instructions for sending samples:
Peripheral Blood Karyotype (trophoblast biopsy)
2.5 ml of peripheral blood in a heparinized tube (Sodium Heparin). Shake lightly. Keep at 8 degrees Celsius. Delivery on the same day, within a maximum of 24 hours. Avoid collecting blood in patients taking antibiotics or suffering from fever or cold.
Bone Marrow Karyotype
2-3 ml of bone marrow in a heparinized tube (Sodium Heparin). Shake lightly. Keep at 8 degrees Celsius. Send on the same day.
Amniotic Fluid Karyotype
20 ml of amniotic fluid in a sterile universal tube. Store at room temperature. Shipping within 24 hours.
Karyotype of Chorionic Villi
10-20 mg of chorionic villi tissue in a sterile tube containing nutrient supplied by the laboratory. Store at room temperature. Delivery on the same day, within a maximum of 24 hours.
Fetal cord blood karyotype
2.5 ml of fetal cord blood in a heparinized tube (sodium heparin). Shake lightly. Keep at 8 degrees Celsius. Delivery on the same day, within a maximum of 24 hours.
Karyotype of spontaneous miscarriage, stillborn foetus or newborn material
- Fetal cord blood: 2.5 ml in sodium heparin. Delivery on the same day, within a maximum of 24 hours.
- Fetal heart blood: 2.5 ml in a heparinized tube (sodium heparin). Delivery on the same day, within a maximum of 24 hours.
- Pregnant endometrial scraping tissue pieces: Place the sample in a sterile, nutrient-free urine collector. If there are only villi, place them in a special material for chorionic villi (see above). Delivery on the same day, within a maximum of 24 hours. This test is usually combined with a histological test to look for causes of spontaneous miscarriage or abortion (see histopathology lab).
