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How is the early diagnosis of genetic diseases usually done?
The Genetic disease may be diagnosed in the prenatal period by karyotype analysis, in case of aneuploidies, or by DNA analysis, in case of other diseases.
The test is performed by the removal of material containing cells of the embryo by cordocentesis (puncture of the umbilical cord) or amniocentesis (extraction of amniotic fluid) or even by chorionic villus biopsy (that can be done earlier in gestation).
The Ultrasonography is a diagnostic procedure for some genetic diseases that produce morphological variations during the embryonic development. The analysis of genetic family trees is also an important auxiliary method in the early diagnosis of many genetic diseases.
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Exon are those parts of a genomic DNA sequence which will be represented in final, mature mRNA t A contiguous segment of the genomic DNA which codes for a polypeptide in the gene.
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