PCR for Trisomy (13, 18, 21 / X&Y)

Test code

GFU

Specimen

3 mL amniotic fluid or 20 mg chorionic villi

Container

Sterile plastic conical tube or sterile plastic conical tube with transport medium

Special instructions

Nil

Collection

Nil

Causes for rejection

Frozen specimen; gross contamination with red cells; non-sterile container; container with rubber stopper (rubber is toxic to amniocytes)

Description of analysis

Multiplex PCR analysis design for screening three common chromosomal aneuploidies Trisomy 21 (Down’s syndrome), Trisomy 18 (Edward syndrome), and Trisomy 13 (Patau syndrome) plus gender determination

Test methodology

DNA is extracted and purified from sample and is subjected to polymerase chain reaction (PCR) amplification. The amplified products are analyzed by gel electrophoresis using genetic analyzer

Limitation

Gestational age must be at least 10 weeks; fetus must be a singleton. Cases of multiple pregnancy (eg, twins), mosaicism, partial trisomy, and translocations are not suitable for this essay

Storage instruction

Specimen should be kept at room temperature

Reference

Nil

QUESTIONS?

+852 2147 4088