NEONATAL PKU screening
Quantitative fluorometric determination of phenylalanine
from neonatal dried blood spots.

The NEONATAL PKU Screening Fluo is an enzymatic fluorescence assay for the quantitative determination of phenylalanine in dried blood spots from newborns, for phenylketonuria (PKU) screening.

Designed for professional use in screening laboratories. For in vitro diagnostic use only - not intended for self or confirmatory testing.

Regulatory Status: CE-IVDR

Format: 288/576 tests

Method: enzymatic fluorescence

Sample: DBS (903®/226 paper) - 3.2 mm punch

Storage: 2-8°C

Automation: Manual or automated

Turn around time: < 1.5h

General information

Advantages

Results available in less than 1.5 hour

Protocol available for manual and automated procedures

No transfer step required

Protocol identical to the NEONATAL MSUD Screening Assay Fluo and NEONATAL T-GAL Screening Fluo kits

Quantitative test with controls and calibration curves supplied on blotting paper

Increased sensitivity of the test due to the use of the fluorescence technique

Compatible instrument & related kits

NEO-F-500

Automated fluorometric workstation for newborn screening assays (5 plates capacity).

NEO-F-1200

Automated fluorometric workstation for newborn screening assays (12 plates capacity).

Maple Syrup Urine Disease

Fluo

The NEONATAL MSUD Screening Fluo is an enzymatic test which enables the fluorescence detection of 3 amino acids (leucine, isoleucine and valine) accumulated in case of maple syrup urine disease (MSUD) in newborns.

Galactosemia TGAL

Fluo

The NEONATAL T-GAL Screening Fluo is an enzymatic test for the fluorescence detection of D-galactose and galactose-1-phosphate in the context of neonatal screening for galactosemia.

Phenylalanine dehydrogenase drives the NAD-dependent oxidative deamination of phenylalanine. The NADH produced reduces resazurin to fluorescent resorufin via diaphorase; fluorescence at 590 nm is directly proportional to the phenylalanine concentration in the sample.

Test principle

Phenylketonuria is an autosomal-recessive disorder of amino-acid metabolism caused by phenylalanine hydroxylase (PAH) deficiency, leading to phenylalanine accumulation. Left untreated it causes irreversible neurological impairment; identified early, it is managed effectively through dietary control - which is why PKU is one of the founding conditions of newborn screening. Elevated screening results are not diagnostic on their own and require confirmatory testing.