Human Karyomap-12 DNA Analysis Kit

A rapid PGT-M solution for single gene disorders

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15050046 RH-103-1001 Infinium HumanKaryomap-12 DNA Analysis Kit (24 samples)
  • Description: Kit contains BeadChips and reagents to perform the karyomapping assay sufficient for 24 samples.

Genomics by Vitrolife

Vitrolife now has exclusive distribution, development and commercialisation rights to Illumina’s preimplantation genetic testing business for IVF in EMEA and the Americas. 

What is PGT-M?

Preimplantation genetic testing for Monogenic Disease (PGT-M) assesses embryos to help prevent the transmission of an inherited genetic disorder to children.

A couple may be interested in PGT-M if they are concerned about passing on a known single-gene condition to their children due to one of the following reasons:

  • Known carrier status for one or both parents
  • Previous child or pregnancy affected with a single-gene condition
  • Family member with a single-gene condition

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

By identifying IVF embryos that most likely do not carry a particular genetic disorder, PGT-M can:

  • Enable the transfer of embryos most likely to be unaffected
  • Reduce a genetically at-risk couple’s chances of passing a known genetic condition onto their offspring

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 or patient-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 embryo carrying a gene variant involved in a single-gene disorder.


Are you a patient?

Learn more about how PGT-M can help prevent the inheritance of a genetic disorder to your children

Learn more


Karyomapping Support Resources:

BlueFuse Multi (BFM) Software Documentation & Download:

BlueFuse Multi (BFM) Annotation Database (BG_Annotation_Ens74_20160909.db):

How to use this product

Human Karyomap-12 DNA Analysis KitTechnotes

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