Newborn Screening

Newborn screening (NBS) is an analytical or physical screening process used to test neonates for inherited or congenital disorders related to inborn errors of metabolism (IEM). IEMs are caused by the deficiency, absence, or alteration of specific enzymatic reactions. The goal of NBS is to detect metabolic errors at the earliest stage of development, such that treatment can be initiated and irreversible damage to the central nervous system can ultimately be avoided. To help facilitate IEM screens (e.g., for phenylketonuria, maple syrup urine disease, medium-chain and very long-chain acyl-CoA dehydrogenase deficiencies), CIL is pleased to offer two types of CE-marked IVD medical devices: amino acid reference standards (NSK-A-CE) and carnitine/acylcarnitine reference standards (NSK-B-CE). These devices have been manufactured according to the quality system requirements outlined by ISO 13485 and rigorously characterized toward fit-for-purpose implementation.

NSK-A-CE and NSK-B-CE

NSK-A-CE

The NSK-A-CE reference standard is composed of a dry mixture (packaged as 10 vials per box) of 12 stable isotope-labeled amino acids. When used as directed (see instructions in product flyer), this product provides a solution to quantitatively measure these target amino acids in a range of neonate biosamples (e.g., dried blood spot, urine) using a variety of analytical techniques (e.g., FIA-MS/MS, LC-MS/MS, LC-MRM/MS). These screens can be used toward the detection of amino acid metabolism disorders (e.g., argininosuccinic aciduria, cirullinemia type II, homocystinuria, phenylketonuria, tyrosinemia types I-III).

NSK-B-CE

The NSK-B-CE reference standard is composed of a dry mixture (packaged as 10 vials per box) of eight stable isotope-labeled standards (free carnitine and eight acylcarnitines). When used as directed (see instructions in product flyer), this product provides a solution to quantitatively measure these target analytes in a range of neonate biosamples (e.g., dried blood spot, urine) using a variety of MS-based techniques. These screens can be used toward the detection of organic acidemias (e.g., methylmalonic acidemia, propionic acidemia) and fatty acid oxidation disorders (e.g., carnitine uptake defect, medium-chain and very long-chain acyl-CoA dehydrogenase deficiencies).


For sale in European Economic Area (EEA) – EU and EFTA – only.
For professional use only.
In the US, CIL products are labeled “For research use only. Not for use in diagnostic procedures.”



Related Products

Frequently Asked Questions – NSK-A-CE

What is the difference between NSK-A and NSK-A-CE? The regulated NSK-A-CE product is designed for use as a calibrator in screening, diagnosis, and monitoring procedures of amino acid metabolic disorders. This is a CE-marked IVD medical device (manufactured according to ISO 13485:2016) that is available only in the European Economic Area (EU and EFTA). The nonregulated NSK-A product, in contrast, is not designed for specific metabolic assessment procedures and is globally available for research applications.

What QC tests are performed on NSK-A-CE? The analyte concentrations of NSK-A-CE are based on HPLC analysis of the reconstituted product against a traceable standard. The mean and standard deviations of the analyzed measurements, together with the target and prepared concentrations, are reported in the product CoAs. The isotopic enrichments (≥98%, via GC-MS) and chemical purity (e.g., 1H NMR, HPLC) are based on tests of the individual neat materials.

What is the recommended protocol for reconstituting this isotope-labeled mix? The guidelines for reconstitution are detailed in the product flyer.

What is the storage and shelf life of this isotope-labeled mix? The details of storage and shelf life are tabulated in the product flyer. This reflects both before and after mix reconstitution.

Where are these CE products available? These are available only in the European Economic Area – EU and EFTA. The applicable countries are tabulated below:

AustriaGermanyLuxembourgSlovenia
BelgiumGreeceMaltaSpain
BulgariaHungaryThe NetherlandsSweden
CyprusIcelandNorwaySwitzerland
DenmarkIrelandPolandTurkey
FinlandItalyPortugalUnited Kingdom
FranceLiechtenstein


Frequently Asked Questions – NSK-B-CE

What is the difference between NSK-B and NSK-B-CE? The regulated NSK-B-CE product is designed for use as a calibrator in screening, diagnosis, and monitoring procedures of organic acidemias and fatty acid oxidation disorders. This is a CE-marked IVD medical device (manufactured according to ISO 13485:2016) that is available only in the European Economic Area (EU and EFTA). The nonregulated NSK-B product, in contrast, is not designed for specific metabolic assessment procedures and is globally available for research applications.

What QC tests are performed on NSK-B-CE? The analyte concentrations of NSK-B-CE are based on HPLC analysis of the reconstituted product against a traceable standard. The mean and standard deviations of the analyzed measurements, together with the target and prepared concentrations, are reported in the product CoAs. Isotopic enrichments (≥98%, via LC-MS) and chemical purity (1H NMR) are based on tests of the starting materials.

What is the recommended protocol for reconstituting this isotope-labeled mix? The guidelines for reconstitution are detailed in the product flyer.

What is the storage and shelf life of this isotope-labeled mix? The details of storage and shelf life are tabulated in the product flyer. This reflects both before and after mix reconstitution.

Where are these CE products available? These are available only in the European Economic Area – EU and EFTA. The applicable countries are tabulated below:

AustriaGermanyLuxembourgSlovenia
BelgiumGreeceMaltaSpain
BulgariaHungaryThe NetherlandsSweden
CyprusIcelandNorwaySwitzerland
DenmarkIrelandPolandTurkey
FinlandItalyPortugalUnited Kingdom
FranceLiechtenstein