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Cytogenetic
Classical Cytogenetic Analysis
Classical cytogenetic analysis remains the most fundamental diagnostic method in medical genetics. Chromosomal testing is indicated in cases of:
- 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.
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)
Molecular Cytogenetics (Fluorescent In Situ Hybridization, FISH)
In recent years, an important new method in the field of chromosomes study has been the rapid growth of the Molecular Cytogenetic Analysis, which has acted as a complement to the limitations of classical cytogenetic analysis (e.g. difficulty in detecting small changes in genetic material and complex chromosomal rearrangements).
More specifically, the following can be detected and elucidated with the molecular cytogenetic analysis (FISH):
- Numerical chromosomal abnormalities.
- Micro-deficiencies.
- Complex chromosomal changes.
- Chromosomes rearrangements of unknown origin in cases of prenatal, postnatal control, as well as in cases of neoplasms, in both metaphase chromosomes and interphase cytogenetics.
Also, a very important application of molecular cytogenetic analysis is its use in stem cell nuclei for preimplantation diagnosis of:
- Numerical chromosomal abnormalities.
- Gender in incidents with a history of gender-related conditions.
- Structural chromosomal abnormalities in cases with a similar history.
Instructions for sending samples:
Molecular Cytogenetic Analysis (FISH): After consultation with the laboratory.
