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.