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1244 1216-11 overview


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1244 1216-11 overview

  1. 1. complete solutions for screening newbornsanalytes, instrumentation andsoftware for neonatal screening
  2. 2. AnAlytes, instrumentAtion And softwAre for neonAtAl screening Everything you need for efficient neonatal screening Prediction before symptoms appear PerkinElmer provides you with the tools you need to For hemoglobinopathy testing PerkinElmer offers an run a successful and cost-effective neonatal screening additional range of products based on the RESOLVE® program. The test kit range covers most of the system and isoelectric focusing. congenital disorders for which neonates are currently screened. PerkinElmer is a pioneer in the application of tandem mass spectrometry (MSMS) to newborn screening, Our three conventional assay platforms are GSP ®, supplying instrumentation, informatics and reagents. AutoDELFIA® and VICTOR™. For these platforms, These products include the NeoBase™ MSMS reagent and subject to local registration requirements, we kit, which has 25 internal standards and supports supply automatic or manual assays for T4, TSH, detection of more than 30 disorders. 17a-hydroxyprogesterone, IRT, Hb and Toxoplasma, as well as for Phenylalanine, GALT, TGAL, Biotinidase Assays for phenylalanine, g6pd and toxoplasma and and G6PD. Kits have been developed specifically for immunoassays for Hb are not available in the usA or neonatal screening, and employ proven fluorescence canada. Additionally, assays for tgAl and biotinidase chemistries to assure excellent performance. are not available in canada. All tests are based on dry blood spot samples measured in 96-well microtitration plates. To prepare the plates a variety of punching devices are available, providing the level of automation desired by the laboratory.2
  3. 3. AssAy processingConventional assay platforms GSP® ** is a multitechnology instrument for neonatal dried blood spot assays employing DELFIA chemistry as well as prompt fluorescence or absorbance-based measurement technologies. From plate loading to results output, GSP performs all assay stages automatically. For The AutoDELFIA® laboratories wishing to implement full automation immunoassay system allows from specimen reception to results delivery, the automatic processing of GSP instrument is compatible with punchers such neonatal assays employing as PerkinElmer’s AutoPuncher™ device and with DELFIA chemistry. It accepts Specimen Gate® informatics. worklists for microplates ** product not available in canada. prepared using punching devices such as the DBS Puncher or MultiPuncher.The VICTOR 2™D fluorometer is used formeasurement of all manual neonatalfluorescence based assays. It is supportedwith a range of devices for samplepreparation including the DBS Puncher,DELFIA Washer-Diskremove, DELFIAPlateshake and/or TriNest™ Incubator Shaker.Sample preparation devices AutoPuncher™ provides full automation in the punching of 3.2 mm and 6 mm dried blood spot disks from specimen cassettes, and placement of the disks in the wells of microtitration plates. MultiPuncher™ can prepare up to six microtitration plates The DBS Puncher has simultaneously. Two a changeable head to different disk sizes, 3.2 mm allow the use of disks and 6 mm, can be punched with diameters of 3.2, from the same spot. 4.7 or 6 mm. Two plates may be loaded to allow simultaneous preparation of different assays. 3
  4. 4. A full rAnge of screening AssAys The diseases screened today are varied. What they to meet todAy’s needs have in common is that without timely treatment they will cause severe retardation of a child’s development. This represents a high cost to the child and their family, to the health care provider and to society in general. PerkinElmer’s assays help secure the first stage of the process to find affected individuals in time. Congenital hypothyroidism (CH) Galactosemia The incidence of CH is 1:3000 to 1:4000 in the USA. If The incidence of galactosemia is 1:30000 to 1:60000 in the untreated CH can lead to severe developmental or intellectual USA. The untreated disorder will cause poor development, delay. Treatment in time allows affected children to develop and in the worst case may be fatal. Treatment consists of a normally. galactose-free diet and allows remission of symptoms. PerkinElmer Neonatal hTSH and Neonatal T4 assays offer PerkinElmer’s Neonatal GALT assay is intended for the two alternative screening strategies for CH. The assays are determination of GALT (galactose-1-phosphate uridyl time-resolved fluorometry-based assays using dried blood spot transferase) concentrations as an aid in screening for classic samples. galactosemia. PerkinElmer’s Neonatal TGAL assay is intended for the determination of total galactose (galactose and galactose-1-phosphate). This measurement provides an Neonatal hTSH GSP** AutoDELFIA VICTOR2D aid in screening for deficiency of any of the three enzymes Neonatal T4 GSP* AutoDELFIA VICTOR2D contributing to a-D-galactose metabolism. Neonatal GALT GSP** VICTOR2D Phenylketonuria (PKU) Neonatal TGAL GSP* VICTOR2D** The incidence of PKU is 1:10000-1:20000 in the USA. If assay in development untreated it can lead to developmental or intellectual delay. Prompt treatment with a phenylalanine restricted diet allows normal development. Congenital adrenal hyperplasia (CAH) The incidence of CAH is 1:15000 in the USA. CAH is a group The PerkinElmer Neonatal Phenylalanine assay is based on the of disorders, the most serious one being potentially fatal. For fluorescence of a phenylalanine-ninhydrin reaction product, all classes of CAH, early treatment can greatly benefit the which is enhanced by the dipeptide L-leucyl-L-alanine. The patient. use of a succinate buffer and the addition of copper further improve the analytical specificity and sensitivity. PerkinElmer’s Neonatal 17-OHP assay is a competitive immunoassay optimized for measurement of 17-OHP (17a-hydroxyprogesterone) from dried blood spots. Neonatal Phenylalanine GSP* VICTOR2D* assay in development Neonatal 17-OHP GSP** AutoDELFIA VICTOR2D * product not available in the usA or canada ** product not available in canada All of the perkinelmer products mentioned on this page are not available in every country. for information on availability in your country please talk to your local perkinelmer representative.4
  5. 5. Cystic fibrosis (CF) HemoglobinopathiesThe incidence of CF is 1:3200 European Americans in the Hemoglobinopathies comprise sickle-cell disease andUSA. CF causes chronic obstructive lung disease, airway thalassemias. It has been estimated that in Southeast Asiainfections and gastrointestinal abnormalities. Early detection alone, 30 million people suffer from thalassemia. Childrenand treatment can significantly improve the quality of life. with hemoglobinopathies are at risk in a number of ways. Those suffering sickle-cell disease are very susceptible toPerkinElmer’s Neonatal IRT allows measurement of pneumococcal infections and acute chest syndrome (ACS),immunoreactive trypsin (IRT) from dried blood spots. while those with thalassemia will be subject to infections andMeasurement of IRT can be used as an aid in identifying intestinal problems, and will not thrive.newborns at increased risk of having CF. PerkinElmer’s Hb Immunoassay is designed to detect sickle- cell anemia and all its related traits from dried blood spot Neonatal IRT GSP** AutoDELFIA VICTOR2D samples. Dual label DELFIA technology allows simultaneous measurement of Hb-A and Hb-S hemoglobin forms. The RESOLVE Neonatal Hemoglobin test kit is designed toGlucose-6-phosphate dehydrogenase separate dried blood spot or cord blood hemoglobins by IEF(G6PD) deficiency on a thin layer gel to allow determination of hemoglobin variants and, for example, differentiation between sickle cellG6PD deficiency is one of the most common newborn anemia and sickle cell trait.disorders. In some countries incidence may be as high as26%. Affected persons are sensitive to anti-malarial drugs,fava beans, sulfa drugs and large doses of vitamin C. Neonatal Hb immunoassay AutoDELFIA*These substances may trigger an oxidative stress that may Neonatal Hb IEF test kit RESOLVEcause jaundice, fatigue, tachycardia and enlarged spleen.In neonates and young children there can be a buildup ofunconjugated bilirubin in the brain that may result in mentalretardation or death. Congenital toxoplasmosisThe PerkinElmer Neonatal G6PD assay is designed for the The incidence of congenital toxoplasmosis has been estimatedquantitative measurement of G6PD from dried blood spot to be 1:1000 to 1:10000. It is caused by the protozoa,samples. Toxoplasma gondii. Acute infections in pregnant women can be transmitted to the fetus, later causing severe illness inNeonatal G6PD GSP* VICTOR2D* the child. The illness is characterized by damage to the eyes, nervous system, skin, and ears. In the majority of affected assay in development children, symptoms are not obvious at birth. Congenital toxoplasmosis is a treatable disease, but must be detected at an early stage.Biotinidase deficiency PerkinElmer’s Neonatal Toxoplasma-Screen kit allows fast andBiotinidase deficiency has an incidence of 1:60000 in the convenient neonatal screening for congenital toxoplasmosis.USA. Symptoms include seizure and possible skin disorders, Run on the AutoDELFIA automatic immunoassay system, itfollowed by developmental delays, speech problems and detects IgM antibodies to Toxoplasma gondii.possible vision and hearing difficulties. Biotinidase deficiencyis ranked 5th by the ACMG (American College of MedicalGenetics) in their list of screenable core conditions. Neonatal Toxoplasma-Screen AutoDELFIA*The PerkinElmer Neonatal Biotinidase assay is intended for thesemi-quantitative determination of biotinidase activity. * product not available in the usA or canada ** product not available in canada All of the perkinelmer products mentioned on this page are not availableNeonatal Biotinidase GSP* VICTOR2D** in every country. for information on availability in your country please talk assay in development to your local perkinelmer representative. 5
  6. 6. Products for expanded screening Amino acids and acylcarnitine assays using tandem mass spectrometry PerkinElmer has worked with numerous screening programs seeking to implement expanded newborn screening employing tandem mass spectrometry. Using this technology laboratories can measure more than 30 amino acid and acylcarnitine analytes in less than two minutes from a single dried blood spot specimen. For sensitive, reliable amino acid and acylcarnitine assay For AA/AC detection or other newborn without a derivazation stage, our NeoBase™ MSMS reagent tests, PerkinElmer supplies the TQD MSMS kit, has 25 internal standards and 23 high and low controls. Instrument, which is used with the 2777C The kit components have been carefully validated to work Sample Manager and 1525 μ Binary Pump. together to produce results to assure the laboratory 100 % Employing well-tested and highly reliable Waters confidence. triple quadrupole mass spectrometer technology, TQD offers the proven stability of the Waters Neonatal AA/AC TQD MSMS Instrument Quattro™ micro, but superior transition times due to T-Wave™ collision cell technology. The TQD instrument has a very small footprint (35.5 cm x 84.8 cm, or 14”x 33.5”). For Tyrosine type 1 – now it’s easy to detect succinylacetone By ordering PerkinElmer’s Succinylacetone Assay Solution and adding this to samples at the same time as you add internal standard, you can extract succinylacetone along with amino acids and acylcarnitines. This allows simultaneous detection of succinylacetone alongside the other key metabolic disease markers with the NeoBase kit.6
  7. 7. informAtics As the amount of patient demographic informationfor mAnAging continues to grow, no screening laboratory can function effectively without an information management system. Based on over 12 years oftHe screening progrAm development of the Specimen Gate® software products, PerkinElmer informatics solutions are characterized by insight and functionality, providing intuitive and practical design. The software makes it possible for a laboratory to track all of the information required to process a sample and follow up a specimen. In addition, results are stored for future reference, and compliance with laboratory regulations is demonstrable at every stage.Specimen Gate users can: Electronic results reporting for efficiency and cost• Quickly find information about specimens, patients, and savings contacts without losing their place/current work. PerkinElmer’s eReports tool harnesses the flexibility of the web to provide a faster and more efficient method• View and enter multiple specimens at once, saving for screening laboratories to report results. eReports work automatically, and choose between a variety of allows laboratories using Specimen Gate applications built-in validation rules. considerable flexibility as to the design and extent of• Tailor searches to individual needs and create shortcuts the information presented in patient reports. Account to key searches and specimens holders can then access to these reports, old or new,• See, and drill down into the details of specimens and via a standard web browser, at any time. demographic information • Cost savings – reduced manual work and no postageFollow up features are also provided, while eReports™ • Lab personnel can free up time and focus on otherallows the laboratory to move over to electronic reporting tasksof results. In PerkinElmer software both the on-screen • Dedicated information centre enhances requesterfunctions and patient reports are available in local confidencelanguage versions. As part of a full range of data importand export capabilities support is provided for HL7, • Faster reporting leads ultimately to better patient careLOINC, and SNOMED. 7
  8. 8. Work with the leader in Newborn Screening PerkinElmer is the global market leader in neonatal screening, currently serving customers in 82 countries. The company is a total solution provider offering complete systems based on a broad range of high quality, validated products, including newborn screening kits, consumables, instruments and software. Our global presence and comprehensive support philosophy mean that our expertise is available to you at all times. 44 babies saved every day The first DELFIA neonatal kit was developed in 1985, to allow dried blood spot measurement of hTSH. In 2009, for this analyte alone PerkinElmer sold kits in 70 countries. By 2009, some 321 million babies had been screened with PerkinElmer products. For every day of the year serious disorders are revealed in 44 babies, making it possible for them to receive timely treatment.All of the PerkinElmer products mentioned in this brochure are not available in every country. Forinformation on availability in your country please talk to your local PerkinElmer representative.Perkinelmer, inc. Perkinelmer genetic screening940 Winter Street center of excellenceWaltham, MA 02451 USA Wallac Oy, PO Box 10wPhone: (800) 762-4000 or 20101 Turku, Finland(+1) 203-925-4602 Phone: + 358 2 2678 Fax: + 358 2 2678 357For a complete listing of our global offices, visit©2010 PerkinElmer, Inc. All rights reserved. PerkinElmer, AutoDELFIA, DELFIA, GSP, Specimen Gate and PerkinElmer are registered trademarks and VICTOR, AutoPuncher, MultiPuncher, NeoBase, eReports and PatientCare are trademarks ofPerkinElmer, Inc. All other trademarks depicted are the property of their respective holders or owners. PerkinElmer reserves the right to change this document at any time and disclaims liability for editorial, pictorial or typographical errors.All PerkinElmer diagnostic products may not be available in all countries. For information on availability please contact your local representative.1244-1216-11,September 2010