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PGT-M (Monogenic)

Genetic Compass for Healthy Generations

Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) is a preimplantation genetic test used to assess the risk of inherited single-gene disorders. Customized for each family, it enables the selection of unaffected embryos for transfer by identifying conditions such as Spinal Muscular Atrophy (SMA), Cystic Fibrosis, Thalassemia, and other inherited genetic disorders at the embryo stage.

The high rate of consanguineous marriages in our country increases the likelihood that both partners may be silent carriers of the same inherited genetic disorder. Identifying shared carrier status before pregnancy is therefore of critical importance (see: Carrier Screening Panels). When both partners are carriers of the same condition, PGT-M can help prevent the transmission of inherited genetic disorders to future generations.

Test Features:

Feature

Detail

Note: A Set-up (Preparation) study, including linkage analysis with samples taken from parents and, if applicable, an affected child, is mandatory before the cycle. This eliminates the risk of allele drop out.
Method

NGS (Next-Generation Sequencing) + Fragment and DNA linkage analysis

Coverage

Patient and family-specific targeted gene/variant

Sample Requirement

PBS-filled* tube for Day 5 biopsy (trophectoderm)

Turnaround Time (TAT)

Setup: 4-6 weeks
Analysis: 7-10 days

* If a Variant of Uncertain Significance (VUS) is identified, genetic counseling is strongly recommended to enable appropriate clinical interpretation of the findings.
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