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Illumina reproductive and genomics solutions use next-generation sequencing (NGS) and advanced microarray technologies to produce fast, accurate genomic information in clinical research and diagnostics. Combining industry-leading technologies with innovative reproductive and genetic health applications, Illumina provides the highest detection capability for genetic abnormalities during all stages of reproductive health and beyond. Across the reproductive continuum, Illumina technologies deliver valuable tools for researchers and healthcare professionals.

Carrier Screening


Carrier screening of parents can detect mutated copies of a recessive gene, informing the risk of those parents having a child with a genetic disease. If two individuals are shown to carry mutated recessive genes for a disease, the current standard of care is for individuals to seek genetic counseling. With the help of a professional, they can gain a better understanding of their risks of having an affected child and make more informed family planning decisions.

Learn about the FDA-cleared Illumina solutions for carrier screening »



Since 1978, in vitro fertilization (IVF) has been used to help couples experiencing infertility challenges to increase their chances of giving birth1. Preimplantation genetic screening (PGS) can be used during the IVF process to better select embryos with a normal number of chromosomes for transfer to improve outcomes.

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Preimplantation genetic diagnosis (PGD) screens embryos created in a laboratory environment for the inheritance of single-gene disorders to select genetically normal, unaffected embryos for implantation during IVF.

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Today, pregnant women have many prenatal testing options available to them for identifying genetic abnormalities, such as trisomy 21, in the fetus. Non-invasive prenatal testing (NIPT) methods, which use cell-free fetal DNA (cfDNA) circulating in maternal blood, test for the most common chromosomal aneuploidies without risk to the pregnancy.

Learn about Illumina solutions for prenatal testing »

Postnatal Cytogenomics


Developmental delay describes the ongoing delay, whether major or minor, in a child’s ability to achieve developmental milestones. Delays may affect gross and fine motor skills, speech and language skills, cognitive skills, and/or social skills. Developmental disabilities are common, affecting about 1 in 6 children2. There are many different causes for developmental delay, with 50% of the cases believed to have a genetic basis3. In these cases, genetic screening may help identify developmental delay early in a child’s life, before severe onset. This is important as early identification and intervention can have a significant impact on a child’s ability to learn new skills, as well as reduce the need for costly interventions over time4.

Learn about Illumina solutions for postnatal cytogenomics »

Inherited Disease


Mendelian diseases collectively account for ~20% of infant mortalities and ~18% of pediatric hospitalizations5. Many of these disorders are due to pathogenic mutations found in coding exons and intron-exon boundaries. Currently, molecular tests are available for a little over 25% of these disorders, contributing to a decline in their appearance. To carry on this trend, it is imperative to continue researching for biomarkers of recessive inherited disorders.

Learn about Illumina solutions for inherited disease »


  1. In vitro fertilization (IVF): MedlinePlus Medical Encyclopedia. ( 02 December 2013.
  2. CDC Data & Statistics ǀ Feature: Developmental Disabilities Increasing in US ( 02 December 2013.
  3. Smith M (2006) Mental Retardation and Developmental Delay: Genetic and Epigenetic Factors. New York. Oxford University Press. ISBN 0-19-517432-1.
  4. CDC – Developmental Disabilities, Facts – NCBDDD ( 02 December 2013.
  5. Kingsmore S (2012) Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases. PLoS Curr. 4: e4f9877ab8ffa9.


Genetic Disease Review

Genetic Disease Review
Select publications discussing how Illumina technology can help increase our understanding of genetic disease and reproductive health.
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Technology Overview

Sequencing Technology, Genetic Disease, and Reproductive Health
Introduction to Next-Generation SequencingIllumina's sequencing technology provides a comprehensive view of the genome. See how NGS is contributing to new discoveries.
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