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We have extended our range with newborn screening. Three new real-time PCR assays from ViennaLab Diagnostics are now available through us, covering spinal muscular atrophy, severe combined immunodeficiency and sickle cell disease. Together with the CAH, cystic fibrosis and thalassaemia assays we already supply, this gives laboratories a single ViennaLab source for the genetic targets most often used in newborn screening programmes.
Spinal muscular atrophy is an autosomal recessive neurodegenerative disease affecting the alpha-motoneurons of the central nervous system, with a prevalence of approximately 1 in 10,000. The homozygous SMN1 exon 7 deletion is causative for more than 95% of SMA patients, and the SMN1 RealFast™ Assay tests newborns for the presence or absence of SMN1 c.840C. Severe combined immunodeficiency comprises a heterogeneous group of diseases characterised by a deficiency of T or B cells, and in some cases of natural killer cells as well; the SCID-XLA mpx RealFast™ Assay determines the copy number of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs). Sickle cell disease is caused by mutations in the β-globin gene, most commonly HBB c.20A>T defining the HbS allele and HBB c.19G>A defining the HbC allele, both of which the HbS-HbC mpx RealFast™ Assay detects.
One practical point for high-throughput screening: the probe selection allows the SMN1 RealFast™ Assay to be combined with either the SCID-XLA mpx RealFast™ Assay or the HbS-HbC mpx RealFast™ Assay in the same run.
New: research use only
SMN1 PCR Assay, real-time PCR detection of the SMN1 c.840C>T variant associated with spinal muscular atrophy. RUO. SCID-XLA mpx PCR Assay, semi-quantitative determination of TREC, KREC and ACTB copy numbers in dried blood spots from neonates. RUO. HbS-HbC mpx PCR Assay, the HBB variants c.19G>A (HbC) and c.20A>T (HbS) as a first-tier test for sickle cell disease. RUO.
Already in our range
CAH StripAssay, CYP21A2 mutation analysis for congenital adrenal hyperplasia. CE-IVDR. CAH PCR Assay, CYP21A2 copy number analysis for congenital adrenal hyperplasia. CE-IVDR. Cystic Fibrosis StripAssay, CFTR mutation analysis, available as a standard panel and in versions tailored to population-specific mutations. CE-IVDR.Alpha Thalassemia StripAssay (α-Globin), the most common HBA1 and HBA2 deletions and mutations in alpha-thalassaemia. CE-IVDR. Beta Thalassemia StripAssay (β-Globin), the most common HBB gene mutations in beta-thalassaemia, in versions for the Mediterranean area, India and the Middle East, and Southeast Asia. CE-IVDR. Beta Thalassemia Modifier StripAssay (β-Thal Modifier), part of the ViennaLab thalassaemia range. CE-IVDD.
Products this note applies to
The kits and instruments discussed above, request a quote or open the product page for the full specification and documentation.
