Preimplantation Genetic Testing (PGT)

Service Details

Preimplantation Genetic Testing (PGT) is a procedure used to detect chromosomal or genetic abnormalities in embryos to prevent the transmission of genetic diseases.

 

Procedure Details

1. PGT-A (Aneuploidy) Testing Using NGS (Next Generation Sequencing)

This is a test to detect abnormalities in the number of chromosomes in an embryo, checking whether any chromosome pairs are increased or decreased. Abnormal chromosomal numbers can lead to conditions such as Down syndrome, which results from having an extra chromosome 21.

2. PGT-SR (Structural Rearrangement) Testing Using SNP Array (Single Nucleotide Polymorphism Array)

This test examines chromosomal abnormalities and structural rearrangements in embryos, such as chromosome pairing or translocation issues. These abnormalities can cause infertility, recurrent miscarriage, or failure of embryo implantation. The SNP array provides a high-throughput analysis, ensuring a detailed and accurate assessment.

3. PGT-M (Monogenic Disorder) Testing Using Karyomapping

This test detects gene-level abnormalities in embryos using high-resolution karyomapping. It covers multiple genetic disorders and helps reduce the risk of transmitting hereditary diseases from parents to their offspring. Examples of such genetic conditions include Huntington’s disease, cystic fibrosis, thalassemia, and Duchenne muscular dystrophy.

Preimplantation Genetic Testing (PGT) offers three specialized services: PGT-A uses NGS for detecting chromosomal aneuploidy; PGT-SR employs SNP array for identifying structural rearrangements; and PGT-M uses karyomapping to detect monogenic disorders, helping prevent genetic disease transmission.