spinal muscular atrophy

With CE-IVD marking, the melt curve analysis-based screening assay is available for sale in the EU and other areas that recognize the designation.

The Lantern Project will screen for patients who may be suffering from Gaucher disease, Fabry disease, Pompe disease, MPS I, or ASMD, and offer confirmatory DNA testing.

The program is open to anyone in the US or in Puerto Rico who is suspected of having SMA or needs confirmation of the disease via genetic testing.

If recommended by the US Department of Health and Human Services, spinal muscular atrophy screening will potentially be adopted on the state level.

Australian researchers call for carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy, Cosmos reports.

Carrier screens for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy detected carrier status in one in 20 individuals and led to diagnoses in seven pregnancies.

Under a five-year NIH grant, the researchers will evaluate whether earlier diagnosis of fragile X and SMA leads to earlier intervention and improved outcomes.

Couples can now buy cystic fibrosis and spinal muscular atrophy carrier screening tests through Amazon, though a doctor will have to approve the order. 

NEW YORK (GenomeWeb) – Natera and the Mount Sinai Genetic Testing Laboratory today announced a partnership to offer Natera's genetic carrier screening test.

NEW YORK (GenomeWeb News) – Genetic testing firm Counsyl has partnered with ARUP Laboratories to offer pre-pregnancy and pregnancy testing for more than 100 recessive genetic disorders.

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Though many details have yet to be worked out, the draft deal for the UK's withdrawal from the EU is giving researchers some hints for what they can expect, Nature News says.

DNA testing has solved a 100-year-old mystery contained in the skull and teeth samples of a now-extinct monkey that once inhabited Jamaica, Gizmodo reports.

As the UN ponders a ban on gene drives, one malaria researcher says there are less dramatic ways to fight the disease in Africa than unleashing GM mosquitoes on a whole continent.

In Nature this week: an improved reference genome of the Aedes aegypti mosquito, genomes of four species of truffles, and more.