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Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)

Healthy choices, healthy future
What is PGT-M?

PGT-M is a specialized genetic test designed to detect known single-gene (monogenic) disorders in embryos created through IVF. Unlike PGT-A, which screens for chromosomal abnormalities, PGT-M specifically targets inherited conditions caused by gene variants passed down within families.

Each PGT-M test is customized to the couple’s unique genetic background. By identifying and selecting embryos free from the disease-causing gene variant, PGT-M greatly reduces the risk of having a child affected by the targeted genetic disorder.

Who is PGT-M for?

PGT-M may be recommended for:

  • Couples who are carriers of the same gene disorder, e.g. Thalassaemia, Sickle Cell Disease, Lysosomal Storage Disorders, etc.
  • Couples with a pregnancy history or child diagnosed with a single-gene disorder
  • Individuals diagnosed with an autosomal dominant condition
  • Women who are carriers of X-linked disorders
Benefits of PGT-M
  • Reduces the risk of passing on inherited genetic disorders
  • Enables selection of healthy embryos for transfer
  • Provides couples with confidence and reassurance in family planning
  • Supports the goal of having a healthy child while reducing emotional and medical challenges associated with genetic diseases
Specimen Requirements
Clinical usageTargeted Preimplantation Genetic Testing on the embryos for known mutation from the families
Type of sample• Trophectoderm biopsy in PCR tube provided by DNA LAB or in tubes recommended by DNA LAB
• WGA product (amplified DNA), performed ONLY using kit validated by DNA LAB
• Blood sample from both parents
NOTE: Please check with DNA LAB prior to PGT-M test request
Patient requirementNo fasting required
Storage & transportation• Trophectoderm biopsy: Sample MUST be shipped in dry ice
• WGA product: Sample MUST be shipped with ice pack
Turnaround Time (TAT)3 weeks