New Test Screens 420 Genes for Markers of SMA, Other Diseases

Catarina Silva, MSc avatar

by Catarina Silva, MSc |

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Novartis Gene Therapies

Thermo Fisher Scientific introduced a new test it says will allow reproductive health researchers to efficiently screen 420 genes for markers of several disorders, including spinal muscular atrophy (SMA).

The new approach combines several stand-alone tests into a single assay.

There are several different tests available for diagnosing genetic diseases. Some are designed to search for mutations in a single gene, while others look for variants in a number of genes known to be altered in a specific disorder. Still other tests search all protein-coding genes, or even the entire genome of a particular individual for disease markers.

Taking advantage of next-generation sequencing — a faster and less expensive way to sequence DNA — the Ion Torrent CarrierSeq ECS Kit can be used for prenatal, postnatal, in vitro fertilization, and newborn screening analyses. It uses man-made fragments of DNA, which match known genetic markers, to produce several copies of DNA sequences from a tiny sample of starting material.

The kit screens 420 genes for known genetic markers implicated in 418 hereditary disorders, including those that are usually difficult to sequence. These include the SMN1 and SMN2 genes for spinal muscular atrophy, GBA for Gaucher’s disease,  CYP21A2 for 21-hydroxylase deficient congenital adrenal hyperplasia, and HBA1 and HBA2 for a blood disorder called alpha thalassemia. The assay can identify more than 28,000 non-benign genetic variants.

The Ion Torrent CarrierSeq ECS Kit also has optimized reagents — substances used to carry out laboratory tests — and customizable software for data analysis, Thermo Fisher said.

“In the past, we’ve typically used many different platforms to cover the plethora of tests,” Luis A. Alcaraz, PhD, scientific and lab director at Bioarray in Spain, and an early access customer, said in a Thermo Fisher press release announcing the new product. “With CarrierSeq ECS kit, we can consolidate many of the tests, which really improves our lab efficiency.”

The software is “intuitive to use,” so Bioarray “can confidently perform various analyses and customize our reporting quickly,” he said.

The kit “is a straightforward, ready-to-use solution that our customers can confidently implement in their lab,” said Yan Zhang, vice president and general manager of reproductive health at Thermo Fisher. “The addition of this kit underscores our mission to enable our customers to make the world healthier.”

SMA Survey