The NeoBase MSMS kit is intended for the quantitative determination of up to 11 clinically significant amino acids and 31 clinically significant acylcarnitines, detecting more than 30 different metabolic diseases from a single dried blood spot sample using the MS/MS tandem mass spectrometer.
Developed, validated and manufactured by PerkinElmer, the kit contains everything needed to perform these analyses with confidence. This kit can be used in combination with the NeoBase Succinylacetone assay (prod. # 3042-0020), which then enables measurement of succinylacetone from the same dried blood spot when measuring amino acids, carnitine and acylcarnitines. The analysis time per sample for the whole acylcarnitine and amino acid profile is typically less than 2 minutes. The kit includes internal standards for the following acylcarnitines and amino acids. Acylcarnitines C0 (free Carnitine), C2, C3, C4, C5, C5DC, C6, C8, C10, C12, C14 C16, and C18 Amino acids Glycine, Alanine, Valine, Leucine, Methionine, Phenylalanine, Tyrosine, Ornithine, Citrulline, Arginine and Proline.
New PerkinElmer NeoBase 2 Non-derivatized MSMS kit allows faster multiplex tandem mass spectrometry (MSMS) analysis of 57 marker metabolites from singel dried blood spot (DBS) specimen.
PerkinElmer Genetics, a technology leader in newborn screening services, now offers screening for six Lysosomal Storage Disorders (LSD). Early detection leading to early intervention has been shown to provide the best chance for a positive outcome. PerkinElmer Genetics uses tandem mass spectrometry (MS/MS) methodology to measure enzyme activity in order to detect infants at risk for having a lysosomal storage disorder. Our Genetic Counseling team will communicate abnormal screening results to the pediatrician or health care professional, provide clinical information about the disorder, and provide recommendations for confirmatory testing through a metabolic treatment center. Assistance is also provided to connect the pediatrician or health care professional with metabolic or LSD specialists for follow-up care.
Lysosomal Storage Disorders screened by PerkinElmer Genetics:
- Fabry Disease (α-galactosidase deficiency)
- Gaucher Disease (glucocerebrosidase deficiency)
- Pompe Disease (glycogen storage disease type II)
- Krabbe Disease (galactocerebrosidase deficiency)
- Hurler Syndrome (mucopolysaccharidosis I, MPS-I)
- Niemann-Pick A/B Disease (acid sphingomyelinase deficiency
Tandem Mass Spectrometry (MSMS) is a multiplexing technology that generates large amounts of data – up to 100 times more data than typical immunoassays. To ease the workload of managing this data, PerkinElmer’s NeoBase™ MSMS Data Suite software is optimized for use with Perkin Elmer’s NeoBase Non-Derivatized MSMS Kit and provides tools to:
- Automatically highlight (flag) cutoff violations
- Evaluate QC performance and trends
- Analyze cutoffs