Trisomy 13 (Patau’s syndrome), Fluorescent In Situ Hybridisation


Trisomy 13 (Patau’s syndrome) is the third most common autosomal trisomy in new-borns. The condition is usually the result of malsegregation (non-disjunction) of chromosome 13 in meiosis in either oogenesis or spermatogenesis. In about 88% of trisomy 13 cases, the parental origin of the extra chromosome is maternal.


Trisomy 13 by FISH is used to confirm the diagnosis of Patau’s syndrome in suspected individuals. This test is also used as a prenatal diagnostic tool, (when performed on amniotic fluid), to confirm or rule out Patau’s syndrome pregnancies, especially after triple or quadruple test results suggestive of high-risk pregnancy. This test offers an advantage over traditional chromosomal Karyotyping as it is rapid, results are usually reported within 24 hours, allowing for enough time to consider the future of a given pregnancy.

Sample Type, Quantity & Conditions

7 ml Heparin Whole Blood Amniotic Fluid Room Temperature

Special Precautions

Normal Range

By Report

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