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Postnatal cytogenetic diagnosis

General aspects

The cytogenetics postnatal analysis is a study of the individual chromosomal set (karyotype or chromosomal map) for identifing the numerical and structural chromosomal abnormalities.

Indications to the cytogenetics postnatal analysis

1 infertile couples
2 couple with poliabortivity
3 people with suspected or documented chromosomal pathology
4 parents of children with suspected chromosomal anomaly but dead without diagnosis
5 family of the carriers of chromosomal anomalies
6 persons with not syndromic mental retardation
7 individual with ambiguous genitals
8 primary or secondary amenorrhea
9 stillborn fetus for malformations or for causes not verify

In Tecnobios Prenatale Eurogenlab the chromosomal map can be performed for samples of:

1 peripheral blood
2 abortive tissue
3 skin tissue

Molecular Cytogenetics (or molecular karyotype)

Thanks to the partnership with other centers in our laboratory is possible to perform, through molecular cytogenetic techniques as Array-CGH (Array Comparative Genomic Hybrization), also the "molecular karyotype", on the peripheral blood, detailed analysis underlining microdeletion / duplication not detectable with the standard karyotype. The Array-CGH analysis on the peripheral blood can be suggested for a mental retardation in subjects with normal traditional karyotype or if it is necessary to characterize a chromosomal anomalies (deletions, duplications,..) found with standard karyotype.