Steps in a PGT-M by NGS technology Study
Created by: Support journeygenomics
Modified on: Mon, 13 Jul, 2020 at 1:44 PM
PGT-M test (also known as PGD) is designed to study monogenic diseases and it is specific to each family. A PGT-M study requires some steps to follow:
1. Case Review
The family clinical report arrives at the laboratory.
2. Panel Design
The PGD-seq panel is designed, specifically for the mutation and family to study.
3. Informative Study
Blood from both parents and other family members arrives at the laboratory and DNA is extracted. Informative study is carried out to know which allele is inherited from each parent.
4. Embryo Biopsy
After ART cycle, the embryos are biopsied on day 3 or 5 by an experienced embryologist.
5. PGD-seq study, in 3 steps:
5.1 First Amplification
When the sample arrives at the laboratory, the first amplification is carried out.
In this step, whole genome is amplified.
5.2. Second Amplification
A second amplification is performed. This time, just a specific region(s) is amplified.
5.3 Sequencing & Analysis
The library is sequenced, then the results are analyzed with a specific software in which each embryo can be diagnosed as affected, carrier or unaffected. This is possible because inherited alleles are known thanks the previous informative study.
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