Researchers in China report having developed a way to quickly and more easily screen for people who carry SMN1 gene mutations associated with spinal muscular atrophy (SMA). This method showed high accuracy for correctly identifying both those who are and are not carriers of SMA-causing mutations, compared with standard…

Researchers are calling for change in prenatal diagnostic procedures in Latvia after the first registered case of a newborn with spinal muscular atrophy (SMA) type 0 was reported in the country. “[It] is crucial to be able to detect this disease prenatally in order to provide the best possible…

Diagnostic testing company Ambry Genetics has launched a reproductive health program to increase access to carrier and prenatal screening for genetic disorders such as spinal muscular atrophy (SMA). The Comprehensive Assessment Risk and Education (CARE) program seeks to enhance the availability of carrier screening and noninvasive…

Researchers in China report having developed a fast and reliable way for a genetic diagnosis of spinal muscular atrophy (SMA) and to identify carriers, those who do not have the disease but can still pass it to their children. Called mass spectrometry-copy number variation, or MS-CNV, the new method was found…

Targeted next generation sequencing (NGS) — a powerful genetic method that can identify mutations in several genes simultaneously — is superior to two commonly used genetic tests for the screening of spinal muscular atrophy (SMA), a study shows. These findings highlight targeted NGS as a reliable and promising approach…

A family and medical history examination was crucial in the genetic counseling given a 28-year-old pregnant woman with two previous children with spinal muscular atrophy (SMA), whose standard genetic testing classified her as a non-carrier of the disease, a case study shows. This case highlights the limitations of standard carrier…

Quest Diagnostics has launched a new screening test to assess the possibility that parents carry genes that might cause spinal muscular atrophy (SMA) and a range of other diseases in their future children. The test, called QHerit, takes into account that people today often have a mixed ethnic…