Cytogenetics

The cytogenetics laboratory provides the standard chromosome analyses on all tissue types for diagnostics of numerical and structural chromosome abnormalities, which can be detected under the light microscope.

– Child with chromosomal abnormality
– Advanced maternal age (>37 y at expected date of delivery)
– Positive screening test (nuchal translucency measurement or combined screening test with adjusted risk > 1:300 and < 1:30)
– Parental chromosomal rearrangement
– Positive NIPT (noninvasive prenatal screening of cell free fetal DNA from maternal plasma)

– Recurrent miscarriage (two or more miscarriages)
– Ambiguous genitalia in newborn
– Female and male infertility
– Menstrual disorders
– Familial chromosome rearrangement
– Child with chromosome rearrangement
– Ring chromosome 20 suspected
– Chromosome syndrome suspected

Postnatal samples: peripheral blood and other solid tissues (skin, muscle,…).

Test turnaround time
The average turnaround time for prenatal samples ranges from 14 to 21 days and up to 7 days for urgent or 3 to 4 weeks for non-urgent postnatal blood samples from the time the samples are received.

 

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