The aim of postnatal diagnosis is to verify the presence of possible chromosomal abnormalities that can be associated with a genetic disease, a reduction of fertility or to the likelihood of giving birth to a child with a genetic disorder.
Conventional cytogenetic analysis is limited in its diagnostic capabilities by its resolution. Generally, this technique is not able to detect chromosomal alterations smaller than about 10 Mb.
DNA alterations smaller than those detectable by conventional karyotype can be the cause of several genetic diseases. The introduction of the CGH-array technique, known as molecular karyotyping, allows us to identify these abnormalities increasing the probability of correctly diagnosing a genetic disease.
During the last decade, many genetic syndromes caused by DNA microdeletions or microduplications have been characterized through CGH-array. Currently, molecular karyotyping is considered the first level genetic test for subjects with intellectual disability, neurological disorders and congenital defects.
Molecular karyotyping in the postnatal period is applicable in some case:
- suspected chromosomal syndrome
- congenital defects
- neurological disorders
- Cognitive disorders
- Characterization of chromosomal abnormalities previously identified by conventional karyotyping
- complex phenotypes
- family members of individuals with chromosomal abnormalities
Microgenomics laboratory is a center specialized for CGH-array postnatal investigations and it offers different array platforms for an accurate postnatal study of the molecular karyotype. In addition, Microgenomics offers high competence and experience and high quality investigations.
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