Newborn screening by DNA Analysis
Extended Newborn screening using qPCR
TARGETED qPCR SMA for the screening of Spinal Muscular Atrophy (SMA)
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by a deletion in the 7th exon of SMN1 gene.
The Targeted qPCR SMA™ kit is designed to genotype the mutation site associated with SMA without differentiation between heterozygous and wild type and is provided in an easy-to-use format.
The test is divided into two steps: an initial extraction and lysis step and a second DNA amplifi cation step via qPCR.
The extraction and lysis of the sample on fi lter paper is carried out by adding two buffers and a 30-minute incubation step on microtitration plates (not included). The extracted sample is then transferred to the Master Mix prefilled microtitration plate provided in the kit. The amplifi cation step is completed using the Biorad CFX96 thermocycler and the qPCR programme lasts 1 hour. The FAM fl uorochrome is used for detecting the wild-type SMN1 allele and the HEX fl uorochrome for detecting the RPP30 ‘housekeeping gene’. The sample from a healthy patient will generate a HEX and FAM signal and an SMA patient will generate a HEX signal only. A synthetic DNA test, recognised by HEX and FAM, is provided with the kit to ensure proper function of the amplifi cation step.
- Specificity: detects homozygous only
- Saves time: plates pre-fi lled with the Master Mix
- Speed: result in approximately 90 minutes
- Quality control: positive control provided in the kit
- Practical: extraction and lysis buffers included and ready to use
- Targeted qPCR SMA
|intended use :||
The Targeted qPCR SMA™ kit is designed to genotype the
|sample size :||Dried blood spot 3.2 mm|
|sample type :||Dried blood spo|
|incubations :||30 min|
|info :||Request info|