Phenylalanin (PKU) neonatal Screening Assay (2400 det.)
- Regulatory Status
- EU: CE IVDR
- Kit size
- 2400
- Method
- Enzymatic assay
- Incubation time
- 2 x 30 min, 1 x 3 min
- Standard range
- 1 - 18 mg/dL
- Specimen / Volumes
- blood spot
- Substrate / isotope
- INT 570 nm
INTENDED USE
Enzymatic Assay for the in-vitro-diagnostic quantitative determination of L-Phenylalanine in human newborn blood spots. For neonatal screening on Phenylketonuria.
INTENDED PURPOSE
Enzymatic Assay for the in-vitro-diagnostic quantitative determination of L-Phenylalanine in human newborn blood spots. For neonatal screening on Phenylketonuria. The Phenylalanine (PKU) neonatal Screening Assay is a manual enzymatic assay and is measured on a microtiter plate absorbance reader. Test results are calculated from a standard curve and compared to laboratory established cut-off values from healthy newborns. The test kit is intended for professional use only by trained personnel. The test kit is not for self-testing. The test kit is not intended for near-patient testing.SUMMARY AND EXPLANATION
Phenylketonuria (PKU) is one of the most often hereditary diseases of the amino acid metabolism.[1] It is an autosomal recessive transmitted disease with a global incidence rate of about 1:10.000, depending on the observed population group.[2]
The main cause of the disease – in more than 90 % of all cases – is a decrease or the absence of the activity of the enzyme complex phenylalanine hydroxylase which is responsible for the transformation of the essential amino acid phenylalanine to tyrosine.[3] The latter is a precursor of the catecholamine, melanin and thyroid hormones. Due to the blocking of this metabolism, phenylalanine is converted by an alternative pathway to phenyl pyruvate and phenyl acetate which are excreted by the kidneys.[4] The disease leads to a mental retardation of the patients, beginning in the first weeks of their life. The cerebral damage can be prevented by a low phenylalanine diet in newborns. Therefore, a screening test for the detection of elevated phenylalanine concentrations in blood has to be done between the first 24 to 72 hours after birth depending on the applicable guideline in the country. Positive screening results are confirmed by additional assays.[5-7]Many screening tests were developed for monitoring patients for phenylketonuria. The first one called after its inventor GUTHRIE is based on the inhibition of Bacillus subtilis growth due to high phenylalanine levels.[8] This method presents some disadvantages, and it was replaced by assays in which the phenylalanine takes part in a chemical reaction developing a fluorescent or a colored substance which can be measured quantitatively.[9] A more convenient sophisticated and more expensive method for measuring phenylalanine levels is LC-MS.[10]
For concrete data please consult the Instruction for Use in the download box on the top right side.
[1] Phipps, W. S., Jones, P. M., & Patel, K. (2019). Amino and organic acid analysis: Essential tools in the diagnosis of inborn errors of metabolism. Advances in Clinical Chemistry, 92, 59-103.
[2] Gersting SW, Kemter KF, Staudigl M, Messing DD, Danecka MK, Lagler FB, Sommerhoff CP, Roscher AA, Muntau AC. Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. Am J Hum Genet. 2008;83(1):5–17.
[3] Adam MP, Mirzaa GM, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2023.
[4] Williams RA, Mamotte CD, Burnett JR. Phenylketonuria: an inborn error of phenylalanine metabolism. Clin Biochem Rev. 2008 Feb;29(1):31-41. PMID: 18566668; PMCID: PMC2423317.
[5] Richtlinien des Bundesausschusses der Ärzte und Krankenkassen über die Früherkennung von Krankheiten bei Kindern bis zur Vollendung des 6. Lebensjahres („Kinder-Richtlinien“) BAnz. Nr. 60 (2005, 2023)
[6] https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria
[7] Hanley, W. B., Demshar, H., Preston, M. A., Borczyk, A., Schoonheyt, W. E., Clarke, J. T. R., & Feigenbaum, A. (1997). Newborn phenylketonuria (PKU) Guthrie (BIA) screening and early hospital discharge. Early human development, 47(1), 87-96.
[8] Guthrie, R. The introduction of newborn screening for phenylketonuria: a personal history. Europ. J. Pediat. 155 (suppl. 1): 4 – 5 (1996).
[9] Kand’ár, R., & Žáková, P. (2009). Determination of phenylalanine and tyrosine in plasma and dried blood samples using HPLC with fluorescence detection. Journal of Chromatography B, 877(30), 3926-3929.
[10] Loeber, J.G.; Platis, D.; Zetterström, R.H.; Almashanu, S.; Boemer, F.; Bonham, J.R.; Borde, P.; Brincat, I.; Cheillan, D.; Dekkers, E.; et al. Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010. Int. J. Neonatal Screen. 2021, 7, 15. https://doi.org/ 10.3390/ijns7010015
Our Product Families
Our comprehensive immunoassay portfolio includes a number of specialty diagnostic immunoassays for endocrinology, immunology and autoimmunity, as well as for diagnosis of multiple infectious diseases. We are pioneers and market leaders in saliva diagnostics, with over 40 years of experience supplying a broad portfolio of luminescence- and ELISA-based tests, including our highly acclaimed HMGB1 and MuSK-Ab ELISAs.
And as experts in laboratory automation, we can support our customers with the protocols for open ELISA platforms, such as the Freedom EVOlyzer or Thunderbolt®.
All products are only available for sale to laboratory professionals and may not be available in all countries. Availability and regulatory status may vary across regions depending on local country-specific registration. Please always read and follow the instructions for use.
All of our assays have been designed and manufactured to meet the highest global regulatory requirements and quality standards. Tecan is certified under ISO 9001:2015, ISO 13485:2016 and is audited by a notified body according to Medical Device Single Audit Program (MDSAP).
This is who we are.
As part of the Tecan Group, we have a leading market position in diagnostics and research, with over 40 years of experience in the development, manufacture and supply of enzyme-, radiolabel- and luminescence-based immunoassays.
Our range of high-quality immunoassays is supported by a diverse portfolio of automated solutions, making us the perfect partner for you and your customers.
Happy to help.
At Tecan, we are driven to improve people’s lives and health.