1. complete
solutions
for screening
newborns
analytes, instrumentation and
software for neonatal screening
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.
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3. AssAy processing
Conventional 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 for
measurement of all manual neonatal
fluorescence based assays. It is supported
with a range of devices for sample
preparation including the DBS Puncher,
DELFIA Washer-Diskremove, DELFIA
Plateshake 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.
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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.
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5. Cystic fibrosis (CF) Hemoglobinopathies
The incidence of CF is 1:3200 European Americans in the Hemoglobinopathies comprise sickle-cell disease and
USA. CF causes chronic obstructive lung disease, airway thalassemias. It has been estimated that in Southeast Asia
infections and gastrointestinal abnormalities. Early detection alone, 30 million people suffer from thalassemia. Children
and 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 to
PerkinElmer’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 and
Measurement 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 to
Glucose-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 cell
G6PD deficiency is one of the most common newborn
anemia and sickle cell trait.
disorders. In some countries incidence may be as high as
26%. 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 RESOLVE
cause jaundice, fatigue, tachycardia 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.
Congenital toxoplasmosis
The PerkinElmer Neonatal G6PD assay is designed for the
The incidence of congenital toxoplasmosis has been estimated
quantitative 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 in
Neonatal 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 and
Biotinidase 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, it
followed by developmental delays, speech problems and detects IgM antibodies to Toxoplasma gondii.
possible vision and hearing difficulties. Biotinidase deficiency
is ranked 5th by the ACMG (American College of Medical
Genetics) in their list of screenable core conditions. Neonatal Toxoplasma-Screen AutoDELFIA*
The PerkinElmer Neonatal Biotinidase assay is intended for the
semi-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 available
Neonatal Biotinidase GSP* VICTOR2D** in every country. for information on availability in your country please talk
assay in development
to your local perkinelmer representative.
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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.
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7. informAtics As the amount of patient demographic information
for mAnAging continues to grow, no screening laboratory can
function effectively without an information
management system. Based on over 12 years of
tHe 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 postage
Follow up features are also provided, while eReports™ • Lab personnel can free up time and focus on other
allows the laboratory to move over to electronic reporting tasks
of results. In PerkinElmer software both the on-screen
• Dedicated information centre enhances requester
functions and patient reports are available in local
confidence
language versions. As part of a full range of data import
and export capabilities support is provided for HL7, • Faster reporting leads ultimately to better patient care
LOINC, and SNOMED.
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