Test Directory

Clinical significance

To trace the causes of various conditions that manifest congenital abnormalities or malformations, it is of significant importance to diagnose chromosomal syndromes by confirming the presence or absence of numerical and structural chromosomal abnormalities. The indications for the test include 1) multiple congenital malformations, especially abnormal phenotypes such as growth delay, intellectual disability, or failure to thrive, 2) the diagnosis of chromosomal syndromes, including those with autosomal abnormalities like Down syndrome, Edwards syndrome, Patau syndrome, and sex chromosome abnormalities such as Turner syndrome, Klinefelter syndrome, and other sex chromosomal numerical abnormalities, 3) delayed or abnormal sexual differentiation, 4) recurrent miscarriages, 5) diagnosing carriers of chromosomal abnormalities, and more. Depending on the sample resolution, some minor deletions can also be identified.

Specimen Collection Instructions

● Collection Method: Collect peripheral blood in a sterile manner, mix it well to prevent coagulation, and transport it immediately to the laboratory. In unavoidable circumstances, maintain refrigeration during transportation.

● When requesting the test, provide sufficient clinical information, the purpose of the request, and previous results along with the test request form and the genetic test consent form.

Related diseases

Down syndrome, Edwards syndrome, Patau syndrome and sex chromosome abnormalities such as Turner syndrome, Klinefelter syndrome, XXX, XXXX, XYY syndromes. Cases involving multiple deformities such as morphological, developmental, or intellectual disabilities

Habitual abortion and disorders of sex development