Advancing PGD with karyomapping

PGD for Clinical Labs

Current preimplantation genetic diagnosis (PGD) methods for single-gene disorders examine the inheritance of short tandem repeats (STRs) adjacent to the disorder’s specific loci. STR methods are expensive and time-consuming because they are developed for each individual case.

Our karyomapping solution is a faster alternative to STR analysis for PGD.1 Using genome-wide linkage-based analysis from a single cell, karyomapping detects whether the gene region containing the mutation was transmitted to an embryo. This can help identify embryos that are most likely have not inherited the gene mutation to be considered for transfer.

Get Faster Results More Efficiently with Karyomapping
Karyomapping offers:
  • Faster results - Rapid workflow compared to current STR technology1
  • Minimal preparation - No disease or patient-specific workup or test design needed
  • Broad coverage - Available for use with wide variety of single-gene disorders

Illumina is committed to providing comprehensive solutions and to being a trusted partner to our customers across the reproductive health continuum. PGS and PGD solutions are at the forefront of this continuum and we aim to reshape the IVF process as we know it. With a world-class community of users, Illumina is a leader in the industry, driving the evolution of innovative applications of genetic technology in reproductive health.

The Illumina Difference

From library prep, arrays, and sequencing to informatics, Illumina next-generation solutions empower researchers and clinicians across the globe to find the answers they seek.

We’re here with all the resources you need to accelerate progress. In addition to onsite training, ongoing support, and phone consults, we offer webinars and courses around the world.

world-class solutions and a community of support
Infinium HumanKaryomap-12 DNA Analysis Kit

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 mutated version of the gene involved in a single-gene disorder.

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NextSeq 550 System

A desktop sequencing system that provides the flexible power and simplicity you need to analyze whole genomes, exomes, and transcriptomes. Optimized sequencing reagents and clustering chemistry yield the data quality you’ve come to expect from Illumina.

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BlueFuse Multi Software

BlueFuse software provides molecular cytogenetic and in vitro fertilization (IVF) data analysis in a single framework. It offers a clear, intuitive user interface; a common workflow; and scales for the needs of your lab. This widely implemented software is used in the majority of laboratories performing PGS.

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Exploring the Benefits of Karyomapping Video

Dr. Alan Handyside discusses how selective implantation of euploid embryos can lead to increased pregnancy rates.

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Karyomapping Primer

Learn how karyomapping offers a rapid PGD solution for single-gene disorders.

Read Primer
SNP Array Identifies Disorder Contributing to IVF Failures

Scientists used karyomapping to identify balanced translocation carriers and translocation abnormalities in IVF embryos.

Read Interview
  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.
  2. Nussbaum, RL; McInnes, RR; Willard, HF; Hamosh, A. Thompson & Thompson Genetics in Medicine, 7th Edition. Saunders/Elsevier, 2007.
  3. Tobias, et al. Essential Medical Genetics, 6. 2011 Wiley-Blackwell.