SMA Newborn Screening Kits

The Scottish Newborn Screening Laboratory has been commissioned to participate in the in-service evaluation for Spinal Muscular Atrophy (SMA) organised by the National Screening Committee. NHSGG&C require newborn screening kits that measure both SMN1 and SMN2 genes simultaneously. The SMN2 copy number must be screened for at the same time as the SMN1 deletion in keeping with the Scottish screening protocol. The requirement is to screen dried blood spot samples from  newborn babies for Spinal Muscular Atrophy (SMA).

The Scottish Newborn Screening Laboratory has been commissioned to participate in the in service evaluation for Spinal Muscular Atrophy (SMA) organised by the National Screening Committee. NHSGG&C require newborn screening kits that measure both SMN1 and SMN2 genes simultaneously. The SMN2 copy number must be screened for at the same time as the SMN1 deletion in keeping with the Scottish screening protocol. The requirement to screen died blood spot samples from newborn babies for Spinal Muscular Atrophy (SMA).

Scotland has begun a 2 year evaluation of SMA screening on behalf of the National Screening Committee to gather data to allow a decision to be made about if SMA screening should be included in the UK Newborn Screening Panel.   SMA is cause by a deletion of the SMN1 gene, but the severity of the disease depends on another gene called SMN2.  SMN2 is present in all babies in various copy numbers, and the lower the copy number the more severe the disease.

No other commercial kits for SMA screening include the SMN2 copy number.  The SMN2 copy number must be screened for at the same time as the SMN1 deletion in keeping with the Scottish screening protocol.