PREIMPLANTATION GENETIC TESTING FOR MONOGENETIC DISORDERS (SELECT PGT-M)

What is

This is a highly specialized genetic test recommended to patients who know they are at an increased risk of passing on a genetic condition, defect, or disease to their children.

This test, also known as Preimplantation Genetic Testing for Monogenic/Single Gene Defects (SELECT PGT-M), is performed on embryos that are developed during IVF. These embryos are tested to aid the careful selection of healthy and unaffected ones to increase the chances of a healthy pregnancy. This test was formerly known as Preimplantation Genetic Diagnosis (PGD). Some examples of diseases that can be detected by SELECT PGT-M: Cystic Fibrosis, Sickle Cell Anemia, Huntington’s, Myotonic Dystrophy, Thalassemia, Tay Sachs Disease, Fragile X Syndrome, Phenylketonuria (PKU), Gaucher’s Disease, Retinoblastoma, Hemophilia A & B, Fanconi Anemia, Duchenne’s Muscular Dystrophy, BRCA1/2, Lynch syndrome and others.

Benefits

  • Identifies embryos affected with a genetic disorder before transfer. This selection increases the chances of a healthy pregnancy and having a baby with no genetic defect/abnormality.
  • It has a 98% accuracy rate in detecting chromosomal abnormalities in embryos and up to 97% for genetic mutation
  • Unique and custom-designed probe for every couple.
  • Linkage analysis for every couple. Linkage analysis is a gene-hunting technique that traces patterns of disease in high-risk families. It attempts to locate a disease-causing gene by identifying genetic markers of known chromosomal location that are co-inherited with the trait of interest.
  • Genetic counselling sessions to assist informed decisions. Prior to making an appointment we recommend sending an email to our genetic counsellors, with any questions you may have about your specific situation.

Who should opt for SELECT PGT-M?

  • SELECT PGT-M is highly recommended for individuals who are aware of their familial genetic risk who know their carrier status of a genetic condition such as:
  • Individuals who are affected by an autosomal dominant condition (i.e. Huntington’s, Myotonic Dystrophy)
  • Couples or individuals who are carriers for a recessive condition (i.e. Sickle cell anemia, Cystic fibrosis)
  • Individuals who are carriers or are affected with X-linked conditions (i.e. Duchenne muscular dystrophy, Haemophilia A)
  • Individuals who are carriers of mutations associated with hereditary cancer syndromes (i.e. BRCA1/2, Lynch syndrome)
  • Individuals who have an affected child with defined genetic condition