New DNA Test to Screen a Child for 193 Genetic Diseases (Download PDF)

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A simple DNA screening test called Sema4 Natalis to detect 193 childhood-onset diseases, including epilepsy, spinal muscular atrophy, and cancer was developed by a US-based genomic testing company.

New DNA Test to Screen a Child for 193 Genetic Diseases

New DNA Test to Screen a Child for 193 Genetic Diseases

New DNA Test to Screen a Child for 193 Genetic Diseases

  • The test could be performed at home with a gentle cheek swab to allow parents to gain early insight into their baby’s health.

  • Sema4 Natalis screens for over five times the number of genetic diseases than a standard hospital test and would be used as a supplement test.

How Does Sema4 Natalis Work?

  • Sema4 Natalis uses advanced DNA sequencing to analyse a baby’s genes

  • Addresses the issue of undiagnosed pediatric illness by using next-generation DNA sequencing and analysis to supplement traditional newborn screening

What Are Genetic Diseases?

  • A genetic disease or disorder is the result of changes, or mutations, in an individual’s DNA.

  • A mutation is a change in the letters (DNA sequence) that make up a gene sometimes referred to as a “spelling” mistake.

What is DNA?

  • DNA, or deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms.

  • Every cell in a person’s body has the same DNA.

  • Most DNA is located in the cell nucleus, but a small amount of DNA can also be found in the mitochondria.

- Published/Last Modified on: April 7, 2018

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