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Complete solutions for screening newborns

Analytes, instrumentation and

software for neonatal screening

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Everything you need

for efficient neonatal screening

PerkinElmer provides you with the tools you need to run a successful and cost-effective neonatal screening program. The test kit range covers most of the congeni-tal disorders for which neonates are currently screened.

There are DELFIA or AutoDELFIA kits for T4, TSH, 17-hydroxyprogesterone, IRT and Toxoplasma, and fluorescence kits for Phenylalanine, GALT and G6PD. All tests are based on dry blood spot samples measured in 96-well microtitration plates. Kits have been devel-oped specifically for neonatal screening, and employ proven fluorescence chemistries to assure excellent performance.

NeoGram MS-MS reagent kits are designed specially for the newborn screening application using tandem mass

spectrometry. Using either the traditional derivatized amino acid/acylcarnitines method or the novel non-derivatized amino acid/acylcarnitines method, more than 30 different metabolic diseases can be detected from a single dried blood spot sample in less than two minutes.

For measurement of tests, PerkinElmer offers various instrument solutions based on our plate readers, automation and the Micromass Quattro tandem mass spectrometer. Together with custom software for data management, a complete package can be created according to the needs of the screening program. In addition PerkinElmer offers a comprehensive range of tests for hemoglobinopathies.

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The Wallac DBS Puncher auto-matically punches dry blood spots into microtitration plates. It has a changeable head to allow the use of blood spots with diameters of 3.2, 4.7 or 6 mm. Two plates may be loaded to allow simultaneous prepara-tion of different assays.

The Micromass Quattro is a compact efficient tandem mass spectrometer. It is supported with reliable NeoGram MS-MS reagent kits and NeoGram soft-ware.

The Wallac MultiPuncher can handle up to six microtitration plates simultaneously. Two dif-ferent disc sizes can be punched from the same spot.

The Wallac AutoDELFIA immunoassay system allows automatic processing of the DELFIA Neonatal assays. It accepts worklists for micro-plates prepared using the Wallac DBS Puncher or the Wallac MultiPuncher.

The Wallac VICTOR2 D is used for measurement of all Wallac neonatal fluores-cence based assays. Together with Wallac devices such as the DBS Puncher, DELFIA Washer-Diskremove, DELFIA Plateshake and the Wallac incubator, it forms a complete semi-automatic assay system.

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Congenital adrenal hyperplasia (CAH)

The incidence of CAH is 1:10000 to 1:15000. CAH is a group of disorders, the most serious one being potentially fatal. For all classes of CAH, early treat-ment can greatly benefit the patient.

DELFIA®/AutoDELFIA® Neonatal 17-OHP

The DELFIA Neonatal 17O-HP assay is a competi-tive immunoassay, with an Eu-label. The assay has been optimized for the measurement of 17-OHP from dried blood spots. It offers a retest rate of less than 0.2%, when using gestational age-adjusted cut-offs. The DELFIA Neonatal 17-OHP assay is already used to screen more than 7 million newborns per year.

Galactosemia

The incidence of galactosemia is 1:14000 – 1:60000. The untreated disorder will cause poor development, and in the worst case fatality. Treatment consists of a galactose-free diet and allows remission of symptoms.

Neonatal GALT

The neonatal GALT assay is designed for the semi-quantitative measurement of galactose-1-phosphate transferase.

Phenylketonuria (PKU)

The incidence of PKU is 1:4500 – 1:20000. If untreated it can lead to mental retardation. Prompt treatment with a phenylalanine restricted diet allows normal development.

Neonatal Phenylalanine

The Phenylalanine assay is based on the fluores-cence of a phenylalanine-ninhydrin reaction prod-uct, which is enhanced by the dipeptide L-leucyl-L-alanine. The use of a succinate buffer and the addition of copper further improve the analytical specificity and sensitivity.

Congenital hypothyroidism (CH)

The incidence of CH is 1:3000 – 1:6000. If untreated CH can lead to severe mental retardation. Treatment in time allows affected children to develop normally.

DELFIA®/AutoDELFIA® Neonatal TSH and DELFIA®/AutoDELFIA® Neonatal T4

The DELFIA Neonatal TSH and the DELFIA Neona-tal T4 kits offer two alternative screening strategies for CH.

More than 15 million newborns are screened each year with the Wallac neoTSH kit.

Wallac solutions

for better patient careEffective neonatal screening improves the quality of life and allows more effective use of health care resources.

The DELFIA neonatal assays are based on time-resolved fluorometry and the unique fluorescence properties of lanthanide chelate labels. Neonatal kits are currently

available for the measurement of hTSH, T4, IRT, 17OHP and Toxoplasma. In our assays for Phenylalanine, Galactose Transferase and Glucose-6-phosphate dehy-drogenase prompt fluorescence is measured. The assays are ideal for laboratories wishing to switch from micro-biological tests.

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Cystic fibrosis (CF)

The incidence of CF is 1:2000 – 1:3000 in Cauca-sians. CF causes chronic obstructive lung disease, airway infections and gastrointestinal abnormali-ties. Early detection and treatment can significantly improve the quality of life.

DELFIA®/AutoDELFIA® Neonatal IRT

Infants with CF have been found to have an increased serum level of immunoreactive trypsin (IRT). Therefore the measurement of IRT from dried blood spots can be used to identify newborns, which are at increased risk of having CF. By using a strategy based on a series of tests, a good sensitivity and specificity for detecting CF can be achieved.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

G6PD deficiency is one of the most common new-born disorders. In the US it has an incidence of 0.6-2.9% and in some countries as high as 26%. Affected persons are sensitive to e.g. anti-malarial drugs, fava beans, sulfa drugs and large doses of vitamin C. These substances may trigger an oxida-tive stress that may cause jaundice, fatigue, tachy-cardia and enlarged spleen. In neonates and young children there can be a buildup of unconjugated bilirubin in the brain that may result in mental retardation or death.

Neonatal G6PD*

The neonatal G6PD assay is designed for the quanti-tative measurement of G6PD. The assay is simple to perform and results are available in less than an hour.

Hemoglobinopathies

Blood from a normal neonate is typically composed of approximately 70%Hb F, 20% Hb A, 9-10% acetylated F (Fac) and 0-1% Hb Bart’s. Detection of clinically significant hemoglobin variants should be achieved as early as possible. Clean separation of Hb F from Hb A permits differentation of sickle cell anemia (Hb SS) from sickle cell trait (Hb AS). Also the separation of Hb S from Hb D or Hb G allows more precise determination of the variant.

Resolve Neonatal Hemoglobin

The RESOLVE Neonatal Hemoglobin test kit is designed to separate dried blood spot or cord blood hemoglobins by IEF on a thin layer gel to allow determination of hemoglobin variants and, for exam-ple, differentiation between sickle cell anemia and sickle cell trait.

Congenital toxoplasmosis

The incidence of congenital toxoplasmosis has been estimated to be 1:1000 to 1:10000. It is caused by the protozoa, Toxoplasma gondii. Acute infections in pregnant women can be transmitted to the fetus, later causing severe illness in the child. The illness is characterized by damage to the eyes, nervous system, skin, and ears. In the majority of affected children, symptoms are not obvious at birth. Con-genital toxoplasmosis is a treatable disease, but must be detected at an early stage.

AutoDELFIA Neonatal Toxoplasma*

The AutoDELFIA Neonatal Toxoplasma kit allows fast and convenient neonatal screening for congeni-tal toxoplasmosis. Run on the Wallac AutoDELFIA® automatic immunoassay system, it detects IgM anti-bodies to Toxoplasma gondii.

*Product not available in the USA or Canada.

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Mass spectrometry means expanded screening. Mass spectrometry means multiple analyte testing

With MS-MS you can effectively screen for all relevant amino acids and acylcarnitines, all from one single sample, in less than two minutes.

PerkinElmer is the pioneer in the commercial appli-cation of mass spectrometry for newborn screening. Our knowledge and commitment to newborn screening make us the best partner to expand your screening pro-gram. Using tandem mass spectrometry, multiple ana-lytes are measured simultaneously. Only a single test is required; changing the concept of screening from “one test – one disorder” to the “one test – many disorders”.

NeoGram reagent kits have been specifically optimized for the quantitative measurement of amino acids and acylcarnitines from dried blood spot specimens in a high throughput screening environment. In combina-tion with the tandem mass spectrometer and NeoGram

software, a system can measure more than 30 analyte parameters in less than two minutes from a single dried blood spot specimen. A kit includes all the reagent components necessary to produce results. Components have been carefully validated to work together to pro-duce results so that the laboratory can have 100 % con-fidence.

For laboratories who wish to expand their menu of MS-MS-based tests gradually, PerkinElmer’s NeoGram PKU reagent kit allows the use of the new technology for measurement of phenyalanine and tyrosine concentra-tions.

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Mass spectrometry means expanded screening. Mass spectrometry means multiple analyte testing

Specimen Gate - a LIMS

for the efficiently run screening laboratory

Effective use of information is a key task for every lab-oratory. Laboratory information management systems (LIMS) are designed to facilitate this task. Wallac Speci-men Gate is not only a LIMS developed for screening environments, but it takes the information management to the next level, helping you manage your entire screening program.

For laboratory process management Specimen Gate Lab-oratory module includes all needed tools from sample preparation through to result reporting. The module includes features like calibration management, quality control, positive ID tracking and instrument linking.

For managing screening office data flow the LifeCycle and PatientCare modules facilitate demographic data entry, flexible query engine, reporting engine as well as patient case and follow-up management.

The Specimen Bank module offers features for speci-men location tracking and security in a biobank storage.

For laboratories familiar with the derivatized method for quantitation of amino acids and acylcarnitines, a NeoGram Derivatized AAAC kit* includes 12 isotopi-cally labeled amino acids and 12 isotopically labeled acylcarnities.

For laboratories who want to reduce sample prepara-tion time, PerkinElmer’s NeoGram Nonderivatized AAAC kit* includes 12 isotopically labeled amino acids and 13 isotopically labeled acylcarnitines.

The derivatized and non-derivatized kits include amino acids for Glycine, Alanine, Valine, Leucine, Methio-nine, Phenylalanine, Tyrosine, Aspartic Acid, Glutamic

acid, Ornithine, Citruline and Arganine. Non-deriva-tized kits also include C5DC.

Acylcarnitine internal standards include C0 (free Carni-tine), C2, C3, C4, C5, C6, C8, C10, C12, C14, C16, C18.

*In the USA, the NeoGram Nonderivatized AAAC kit is not

available and the NeoGram Derivatized AAAC kit is available for

investigational use only.

In providing key benefits such as total solution, per-formance, reliability and flexibility, Specimen Gate is the basis for an efficient and secure screening program.

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The Wallac Neonatal Screening System

PerkinElmer Life and Analytical Sciences provides innovative total solutions for population screening and clinical diagnostics, as well as for drug discovery, and genomic and proteomic research. PerkinElmer population screening and clinical diagnostics prod-ucts are used to protect the health of members of the population from before birth to old age.

PerkinElmer Life and Analytical Sciences710 Bridgeport AvenueShelton, CT 06484-4794 USAPhone: (800) 762-4000 or(+1) 203-925-4602www.perkinelmer.com

For a complete listing of our global offices, visit www.perkinelmer.com©2004 PerkinElmer, Inc. All rights reserved. The PerkinElmer logo and design are registered trademarks of PerkinElmer, Inc. NeoGram and Wallac are trademarks, and AutoDELFIA, DELFIA and Specimen Gate are registered trademarks of PerkinElmer, Inc. or its subsidiaries, in the United States and other countries. All other trademarks not owned by PerkinElmer, Inc. or its subsidiaries that are depicted herein are the property of their respective owners. PerkinElmer reserves the right to change this document at any time and disclaims liability for editorial, pictorial or typographical errors.

1244-1216-09 February 05 Printed in Finland by Offsethouse Oy

Wallac Oy, PO Box 10 20101 Turku, FinlandPhone: + 358 2 2678 111Fax: + 358 2 2678 357www.perkinelmer.com

All products presented in this brochure-may not be available in all countries. For information on availability please contact your local representative.

From a company with a strong background in quantitative methods

Our key role is to help customers to identify sus-ceptible members of the population, so that appro-priate treatment may be applied at the right time, often before symptoms of a disease appear. With our wide range of test kits, instruments and software we offer the key components for cost-effective, successful screening programs.