Chromosome Analysis, Congenital Disorders, Blood

Use

Chromosome analysis is useful for diagnosing congenital chromosome abnormalities such as aneuploidy, structural abnormalities, and balanced rearrangements. It is particularly relevant for individuals displaying clinical features of infertility, multiple miscarriages, delayed puberty, ambiguous genitalia, amenorrhea, or symptoms indicative of an aneuploidy syndrome such as Down syndrome, Turner syndrome, Klinefelter syndrome, Trisomy 13 syndrome, and Trisomy 18 syndrome. However, it is not appropriate for detecting acquired chromosome abnormalities associated with hematologic disorders.