PGT-M (Preimplantation Genetic Testing For Single Gene Disorders)

Preimplantation Genetic Diagnosis (PGD) using NGS checks for single gene disorders when parents carry the condition and thus at risk of transmitting to their children. PGD allows us to select embryos free of a specific known disorders prior to implantation and pregnancy.

Possible candidates for PGD

  1. Carriers of single gene disorders;

  2. Couples who have a child/children affected by a single gene disorders;

  3. Couples who have a family history of a single gene disorders.

Example of common single gene disorders in Asia

  • Alpha Thalassemia;

  • Beta Thalassemia;

  • Hemophlia A (F8);

  • Hemophilia B (F9);

  • Autosomal Dominant Polycystic Kidney Disorders (ADPKD);

  • Autosomal Recessive Polycystic Kidney Disorders (ARPKD);

  • Duchenne muscular dystrophy;

  • Congenital Adrenal Hyperplasis;

  • Spinal muscular atrophy (SMA);

  • Fragile X Syndrome;

  • Phenylketonuria (PKU);

  • Galactosemia;

  • Wilson Disorders;

  • Deafness (GJB2 gene)

Example of rare single genes disorders

  • Krabbe disease

  • Osteogenesis Imperfecta I

  • Kennedy’s disease

  • Mucopolysaccharidosis I

We also offer PGD for other single gene disorders which require personalized development. 

5 Steps to perform the PGD

  1. Consultation, Provide us family history and the genetic reports, if already done. Answer within 3 days;

  2. Pre-PGD, Genetic testing of wife, husband, and close relatives (prefer affected child) to identify the specific disorders mutation in the family, if not already done. Answer within 1 month;

  3. IVF and Embryo Biopsy, Embryos are created and grown to the blastocyst stage;

  4. PGD, Blood samples from the couple and from close relatives of known the disorders status are required. Answer within 2 months for common disorders and 4 months for less common disorders;

  5. Normal Embryo Transfer.

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