YOUR BABY’S FIRST STEP TO A HEALTHY LIFE
Most comprehensive newborn metabolic screening for 0-6 months.* Screening your newborn will facilitate early treatment and prevent long term detrimental effects to your baby’s health.
Why Metabolic Screening?
Newborn with metabolic disease are most severe and can lead to death
Metabolism is a set of chemical reaction processes, in which enzymes play an important role in breaking down and converting food into energy to maintain the body’s operation, such as the immune system, physical development and brain development, etc.; it can also digest food Get energy to ensure proper functioning of the body.
Newborn infants with metabolic diseases (congenital metabolic deficiencies) due to the lack of some enzymes for normal metabolic function, the body accumulates too many toxic substances or lacks important nutrients. Although metabolic diseases are relatively rare, if proper treatment is not performed in time, metabolic diseases can lead to disability in the limbs, lifelong disabilities, and intellectual disability. In the most serious cases, it can lead to death.
An Affected Baby may Appear Normal
Affected baby appears normal.
Affected baby lacks enzyme to breakdown milk properly.
Affected baby becomes sick, with symptoms like vomiting, seizures, poor feeding, lethargy or developmental delays.
Unlike blood specimen collection, Metascreen® is a non-invasive procedure
Metascreen® is the most comprehensive newborn metabolic screening. Unlike other newborn tests in the market, Metascreen® is a simple and non-invasive urine test to screen more than 100 metabolic disorders without causing any harm or discomfort to your baby. Screening your newborn will facilitate early treatment and prevent long term detrimental effects to your baby’s health.
Reliably detects more than 100 metabolic disorders
FDA-approved GC-MS technology combined with proprietary bioinformatics to reliably detect more than 100 metabolic disorders.
Simple and painless urine test
Your baby’s urine can be easily collected by inserting filter paper into the diaper without causing any harm or discomfort to your baby.
Suitable to babies up to 6 months*
Screen your baby from 48 hours after birth, up until 6 months of age.*Ideally, your baby should be screened between 2 to 7 days.
Timely screening report
The results will be available within 10-14 working days to enable early treatment, if necessary.
The laboratory is located at Hong Kong Science and Technology Park which has stringent standards for laboratory operations, quality and technology.
Highly Accurate & Specific
Metascreen® uses a gas-chromatography mass spectrometry (GC-MS) technology manufactured by Shimadzu, Japan. After processing the urine specimen through GC-MS, we analyse the GC-MS data using proprietary planar bioinformatics first developed by Japanese researchers. The planar bioinformatics makes use of multiple analytes (metabolites) from more than one biochemical (metabolic) pathway to identify a single metabolic disorder. This means that the results would be more reliable and accurate than traditional technology using mass tandem spectrometry (MS-MS) because MS-MS only uses about 1 or 2 analyte profiles for each disorder, and often, the same analyte profile is used for multiple disorders.
CAP Accredited Laboratory
CAP (The College of American Pathologists) accreditation is the highest standard for management and processes of a laboratory, focusing on reliability, accuracy and quality. This accreditation is given to facilities after a rigorous site inspection accompanied by an examination of the records and quality of the facility's management system. Cordlife's commitment and focus on quality was recognized when our facility earned the prestigious CAP accreditation.
In Indonesia, about 1 in every 1,250 babies5 is expected to be born with an inherited metabolic disorder.
Screening your newborn will facilitate early treatment and prevent long term detrimental effects to your baby’s health.
Highly reliable testing platform
Using FDA-approved GC-MS technology, Metascreen® is a non-invasive urine test that screens more than 100+ metabolic disorders without causing any harm or discomfort to your baby. As many metabolic disorders are organic acid disorders (also known as “organic acidemias”), they can be detected more accurately using urine, based on the abnormal excretion patterns of the metabolites as a result of faulty metabolism caused by the disorder. Because our kidneys can efficiently remove unwanted or toxic metabolites from the blood, such compounds are excreted in large amounts in the urine, but may not be found in significant concentrations in blood.1
The American College of Medical Genetics (ACMG) actually recommends urine organic analysis as the diagnosis step for many of metabolic disorder, should there be a positive newborn screening result using the dried blood spot analysed by tandem mass spectrometry (MS/MS).2,3
|OTHER TEST MS-MS TECHNOLOGY
|Baby’s bloods from heel prick
|More than 100 disorders
|Around 20-30 disorders
|Higher false positive (0.07- 3.00%)4
|Specific result using multiple analyte profiles
|Confirmatory test is needed for verification
|Time to diagnose
|From screening and confirmation to diagnosis
|From screening to confirmation then finally to diagnosis
More than 100+ metabolic conditions tested
Acid and organic acid metabolism disorders
- Propionic aciduria
- Holocarboxylase synthetase deficiency
- Methylmalonic aciduria (Cbl C and Cbl D)
- Methylmalonic Aciduria
- Methylmalonic aciduria (Cbl A and Cbl B)
- Malonic aciduria
- Isobutyryl-CoA dehydrogenase deficiency
- 2-methylbutyryl-CoA dehydrogenase deficiency
- Methylmalonic Semialdehyde Dehydrogenase Deficiency
- Beta-ketothiolase deficiency
- Isovaleric aciduria
- 3-Methylglutaconic aciduria (type I – hydratase deficiency)
- Barth Syndrome
- 3-hydroxy 3-methyl glutaric aciduria
- Glutaric aciduria type II（H-PHE）
- Glutaric aciduria type I
- Mevalonate kinase deficiency
- Phenylketonuria (phenylalanine hydroxylase deficiency)
- Hyperphenylalaninuria (variant, benign)
- 2-Methyl 3-hydroxy butyric aciduria
- Tyrosinuria type I (hepatorenal tyrosinemia)
- Tyrosinuria type II (oculocutaneous tyrosinemia)
- Tyrosinuria type III (4-hydroxyphenylpyruvate dioxygenase def.)
- Transient Tyrosinuria of the newborn
- Tyrosinuria caused by a liver disease
- Maple syrup urine disease
- N-acetylglutamate synthase deficiency
- Carbamylphosphate synthetase deficiency
- Ornithine transcarbamylase deficiency
- Citrullinuria (argninosuccinate synthase deficiency)
- Citrullinuria type II (citrin deficiency)
- Argininosuccinic aciduria
- Hypermethioninuria (MAT I/III deficiency)
- Homocystinuria cystathionine beta-synthase deficiency
- Tada syndrome
- Encephalopathy due to hydroxykynureninuria
- Dihydrolipoyl dehydrogenase(E3) deficiency
- Beta-hydroxyisobutyryl CoA deacylase deficiency
- Hartnup syndrome
- Lysinuric protein intolerance
- Alpha-ketoadipic aciduria
- Seizures-intellectual deficit due to hydroxylysinuria
- Hyperprolinuria type I
- Hyperprolinuria type II
- Hyper hyperprolinuria
- Biotinidase deficiency
- Fumarate hydratase deficiency
- Hyperornithinuria-Hyperammonuria-Homocitrullinuria Syndrome
- 2-hydroxyglutaric aciduria
Sugar metabolism disorders
- Classic galactosenuria
- Galactokinase deficiency
- Galactose epimerase deficiency
- Transient galactonuria
- D-glyceric aciduria
- Fructose-1, 6-Diphosphatase Deficiency
- Endogenous sucrosuria
- Lactose intolerance
Fatty acid metabolism disorders
- Short-chain acyl-CoA dehydrogenase deficiency
- Medium-chain acyl-CoA dehydrogenase deficiency
- Medium/short-chain L-3-OH acyl-CoA DH deficiency
- Long-chain 3-OH acyl-CoA dehydrogenase deficiency
- Ethylmalonic encephalopathy
- Dicarboxylic aciduria
- Zellweger syndrome
- Neonatal adrenoleukodystrophy
- Infantile Refsum disease
- Zellweger-like syndrome
- Primary Hyperoxaluria
Purine & pyrimidine metabolism disorders
- Disorders of Purine, Pyrimidine Metabolism
- Lesch-Nyhan syndrome
- Kelley-Seegmiller syndrome
- Adenine phosphoribosyltransferase deficiency
- Hereditary xanthinuria
- Orotic aciduria
- Dihydropyrimidine dehydrogenase deficiency
- Dihydropyrimidinase deficiency
- Beta-ureidopropionase deficiency
Lactic acid, hyperpyruvic acid metabolic disorders
- Pyruvate dehydrogenase e1-beta deficiency
- Pyruvate dehydrogenase phosphatase deficiency
- Pyruvate carboxylase deficiency
- Pyruvate decarboxylase deficiency
- Leigh syndrome
- Cytochrome c oxidase deficiency
- De Toni-Debré-Fanconi syndrome
- Imidazole aminoaciduria
- Formiminoglutamic aciduria
- Canavan disease
- Glutathione synthetase deficiency
- Gamma-glutamyl transpeptidase deficiency
- Succinic semialdehyde dehydrogenase deficiency
- Neonatal intrahepatic cholestasis caused by citrin deficiency
- Beta-aminoisobutyric aciduria
Metascreen® Enrolment Process
Your baby’s first step to a healthy life. Enrolling Metascreen® for your baby now, the only non-invasive comprehensive newborn screening that detects more than 100+ metabolic disorders.
Call us for service enrolment and get collection kit.
Collect your baby’s urine sample when baby is at least 2 days old and has taken at least one feed 24 hours ago.
Call our hotline and courier service will be arranged for sample pick up.
Testing & Analysis
Your baby’s urine sample will be screened and analysed for metabolic disorders using GC-MS technology.
Reporting & Follow Up
We will arrange a follow up consultation if the test result is positive.
Tyrosinemia Type I
Tyrosinemia Type I is a type of amino acid disorder characterised by the lack of fumarylacetoacetate hydrolase (FAH), an enzyme required to breakdown the amino acid tyrosine; If left untreated, the condition can potentially result in a wide variety of symptoms including liver & kidney failures, developmental delays, increased risk of liver cancer, etc.
Phenylketonuria (also known as PKU) is a congenital disorder that increases the levels of phenylalanine in the blood. Phenylalanine is the building block of proteins that are obtained through dietary intake of food such as meat, fish, beans, eggs and some artificial sweeteners.If left untreated, phenylalanine can build up to harmful levels in the body, causing permanent intellectual disability and other serious health problems; Affected infants usually become apparent by 6 months of age with signs of mental retardation.
Matthew was born in February 2011 with a rare genetic disorder called Primary Hyperoxaluria Type 1. This was difficult for the family as Matthew’s sister has the same condition, though she had not experienced serious symptoms. However, Matthew were suffering serious symptoms which affected his liver as well as his kidney and he has been on dialysis at least 6 days a week since he was 5 months old. However, all the medications and dialysis did not improve Matthew’s liver and kidneys. Finally, he got liver and kidney transplant on 2013.
Canavan disease is a progressive and fatal cerebral degenerative disease that begins in infancy. This inherited genetic abnormality is caused by mutations in the gene for an enzyme which causes deterioration of the white matter (myelin) in the brain Symptoms such as mental retardation, lack of head control etc, usually become noticeable at the age of three to nine months old. Many children do not live past age 10.Although there is currently no cure for Canavan disease, the present treatment involves managing the symptoms.
Metascreen is a trademark or registered trademark of Cordlife Group Limited, a Singapore Exchange Mainboard listed company. The screening test offered under the brand is conducted by Cordlife (Hong Kong) Ltd., a CAP-accredited laboratory committed to providing early and accurate detection of metabolic disorders in newborn babies. Cordlife (Hong Kong) Ltd. has a quality management system in place to ensure maximum accuracy of screening results. As with any laboratory tests, false positive or false negative results cannot be completely eliminated due to various reasons including but not limited to age of patient at the time of specimen collection, patient’s health status, specimen quality and other variables. Hence, the risk of a disorder should never be precluded solely on the basis of screening. Signs or symptoms observed should be followed up immediately by a professional healthcare provider.
1) Bouatra S, Aziat F, Mandal R, Guo AC, Wilson MR, et al. The Human Urine Metabolome. PLoS ONE. .2013, 8(9): e73076.
2) Michael J. Laboratory Medicine Practice Guidelines. Follow-up Testing for Metabolic Diseases Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry. The National Academy of Clinical Biochemistry. 2009
3) Berdasarkan data internal, Juni 2020.
4) D. Matern, K. Raymond, S. Tortorelli, et al. Improving NBS Performance: The Mayo Clinic Experience Report.
5) Padilla CD, de la Paz EM. Genetic services and testing in the Philippines. J Community Genet. 2013;4(3):399-411.
*This screening can be done up to a maximum of fourteen (14) years from birth