Use cases
Organisations conducting:
- Pre-conception testing (IVF clinics, fertility clinics)
- Pre-marital screening (required by law in several countries)
- Gamete screening before donation (gamete banks)
Dual Sample Carrier Screening
Ultimate flexibility, designed for your needs.
Conduct pre-conception or pre-marital carrier screening as a module of NGS variant interpretation and reporting platform omnomicsNGS – quickly view genetic variants of possible pathogenic effect of a couple before they affect offspring.
The omnomicsNGS dual sample carrier screening module allows you to quickly and easily flag situations where both partners carry a potentially deleterious variant in the same gene.
omnomicsNGS carrier screening shows you the information you need to make an informed decision regardless of the test used – we have your target genes covered.
What is carrier screening?
Carrier screening is the genetic testing of two individuals to evaluate if they are carriers of a recessive disease. Carriers of recessive diseases often show no outward signs of carrying the gene or variant, and are unlikely to develop the disease.
However, they can pass on dangerous variants to their children; carrier screening helps to find these potentially damaging genetic changes to reduce the risk of passing genetic diseases on to offspring.
Relevant diseases covered:
Autosomal recessive and X-linked conditions
- Haemoglobinopathies – associated with the HBB gene, testing for this disease is required by law in several countries before pregnancy, including Sickle cell Anaemia and Thalassaemia
- Cystic Fibrosis – CFTR gene autosomal recessive disease
- Spinal Muscular Atrophy – SMN1 gene autosomal recessive disease
- Duchenne Muscular Dystrophy – X-linked recessive disease
Analysis of WES for Orphan diseases is also possible.
Regardless of whether you are testing a small panel of genes, or sequencing a full exome or genome, omnomicsNGS carrier screening is for you. The software can handle any number of genes, both autosomal and X-linked, and is not limited by the kit or test used.