What is PGT-M?
Preimplantation genetic testing for Monogenic Disease (PGT-M) relies on the use of genetic markers within the genome to assess the likelihood of an embryo carrying a gene mutation that may be linked to an inherited genetic disorder.
How PGT-M works?
1. If both parents carry a mutation for example for cystic fibrosis, there is a 1 in 4 chance that their offspring will have the disease.
2. Using knowledge of CF carrier or disease status in the parents, scientists can look at the chromosome segment in which the gene lies to determine from which parental chromosome the gene originated.
3. Scientists can then determine whether the chromosome segment inherited by each embryo contains the normal or mutated copy of the CF gene.
4. This helps determine whether the embryo inherited a single mutation from either parent and will be an unaffected carrier, whether the embryo inherited a mutation from each parent and will be affected with CF, or whether the embryo did not inherit any mutations. If the embryo is likely unaffected, it is considered to be a good candidate for transfer
Benefits of PGT-M
Enabling scientists to identify in vitro embryos that are likely to carry certain genetic disorders.
Advantages of PGT-M using Karyomapping
Faster results due to an ultra-rapid workflow compared to single tandem repeat (STR) technology1
- Minimal preparation - no disease - specific workup needed
- Wide coverage - available for use with most single-gene conditions
1. Natesan S, Bladon AJ, Coskun S, et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med. 2014;(January):1–8.
Human Karyomap-12 DNA Analysis Kit
The HumanKaryomap-12 DNA Analysis Kit is a comprehensive genome-wide test available at the single-cell level. It provides insight into the inheritance of single-gene defects.
This BeadChip array targets ~300,000 of the most informative markers in the genome for efficient genome-wide coverage. Karyomapping uses biomarkers within the genome to assess the likelihood of an in vitro embryo carrying a gene variant involved in a single-gene disorder.
Support
Karyomapping Support Resources:
https://support.illumina.com/array/array_kits/humankaryomap-12-v1-beadchip-kit.html
BlueFuse Multi (BFM) Software Documentation & Download:
https://support.illumina.com/array/array_software/bluefuse-multi-software.html
BlueFuse Multi (BFM) Annotation Database (BG_Annotation_Ens74_20160909.db):
https://support.illumina.com/downloads/bluefuse-multi-annotation-dbs.html
