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

An Affected Baby may Appear Normal

Affected baby lacks enzyme to breakdown milk properly.

Affected baby becomes sick, with symptoms like vomiting, seizures, poor feeding, lethargy or developmental delays.

Meta 100+ is the most comprehensive non-invasive newborn metabolic screening test

Newborn metabolic screening can either be done with your newborn’s urine (Meta 100+) or blood specimen (Meta 56). The difference between using urine and blood for newborn screening is the number of metabolic disorders detectable. 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*

Your baby’s urine can be easily collected by inserting filter paper into the diaper without causing any harm or discomfort to your baby.

Timely screening report

The results will be available within 10-14 working days to enable early treatment, if necessary.

International accreditation

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.

About 1 in every 1,250 babies1 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.

Groups of inborn errors of Metabolism (IEMs) Meta 56 Meta 106
Amino acidopathies and organic acidemia 30 59
Disorders of sugar metabolism - 8
Disorders of urea cycle 8 -
Disorders of fatty acid metabolism 12 16
Peroxisomal diseases - 5
Disorders of purine and pyrimidine metabolism - 9
Lactic acidemia and hyperpyruvic metabolism - 7
Other IEMs 6 12
56 106

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.2

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).3,4

Invasiveness Baby’s urine Baby’s bloods from heel prick
Number More than 100 disorders Around 20-30 disorders
Accuracy rate 99%4 Higher false positive (0.07- 3.00%)5
Specificity 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

  1. Propionic aciduria
  2. Holocarboxylase synthetase deficiency
  3. Methylmalonic aciduria (Cbl C and Cbl D)
  4. Methylmalonic Aciduria
  5. Methylmalonic aciduria (Cbl A and Cbl B)
  6. Malonic aciduria
  7. Isobutyryl-CoA dehydrogenase deficiency
  8. 2-methylbutyryl-CoA dehydrogenase deficiency
  9. Methylmalonic Semialdehyde Dehydrogenase Deficiency
  10. Beta-ketothiolase deficiency
  11. Isovaleric aciduria
  12. 3-Methylcrotonylglycinuria
  13. 3-Methylglutaconic aciduria (type I – hydratase deficiency)
  14. Barth Syndrome
  15. 3-hydroxy 3-methyl glutaric aciduria
  16. Glutaric aciduria type II(H-PHE)
  17. Glutaric aciduria type I
  18. Mevalonate kinase deficiency
  19. Glyceroluria
  20. Phenylketonuria (phenylalanine hydroxylase deficiency)
  21. Hyperphenylalaninuria (variant, benign)
  22. 2-Methyl 3-hydroxy butyric aciduria
  23. Tyrosinuria type I (hepatorenal tyrosinemia)
  24. Tyrosinuria type II (oculocutaneous tyrosinemia)
  25. Tyrosinuria type III (4-hydroxyphenylpyruvate dioxygenase def.)
  26. Transient Tyrosinuria of the newborn
  27. Tyrosinuria caused by a liver disease
  28. Maple syrup urine disease
  29. N-acetylglutamate synthase deficiency
  30. Carbamylphosphate synthetase deficiency
  31. Ornithine transcarbamylase deficiency
  32. Citrullinuria (argninosuccinate synthase deficiency)
  33. Citrullinuria type II (citrin deficiency)
  34. Argininosuccinic aciduria
  35. Argininuria
  36. Hypermethioninuria (MAT I/III deficiency)
  37. Homocystinuria cystathionine beta-synthase deficiency
  38. Alkaptonuria
  39. Tada syndrome
  40. Encephalopathy due to hydroxykynureninuria
  41. Valinuria
  42. Hyperleucine-isoleucinuria
  43. Dihydrolipoyl dehydrogenase(E3) deficiency
  44. Beta-hydroxyisobutyryl CoA deacylase deficiency
  45. Histidinuria
  46. Hartnup syndrome
  47. Lysinuric protein intolerance
  48. Alpha-ketoadipic aciduria
  49. Saccharopinuria
  50. Seizures-intellectual deficit due to hydroxylysinuria
  51. Cystathioninuria
  52. Hyperprolinuria type I
  53. Hyperprolinuria type II
  54. Hyper hyperprolinuria
  55. Hawkinsinuria
  56. Biotinidase deficiency
  57. Fumarate hydratase deficiency
  58. Hyperornithinuria-Hyperammonuria-Homocitrullinuria Syndrome
  59. 2-hydroxyglutaric aciduria
  1. Classic galactosenuria
  2. Galactokinase deficiency
  3. Galactose epimerase deficiency
  4. Transient galactonuria
  5. D-glyceric aciduria
  6. Fructose-1, 6-Diphosphatase Deficiency
  7. Endogenous sucrosuria
  8. Lactose intolerance
  1. Short-chain acyl-CoA dehydrogenase deficiency
  2. Medium-chain acyl-CoA dehydrogenase deficiency
  3. Medium/short-chain L-3-OH acyl-CoA DH deficiency
  4. Long-chain 3-OH acyl-CoA dehydrogenase deficiency
  5. Ethylmalonic encephalopathy
  6. Dicarboxylic aciduria
  1. Zellweger syndrome
  2. Neonatal adrenoleukodystrophy
  3. Infantile Refsum disease
  4. Zellweger-like syndrome
  5. Primary Hyperoxaluria
  1. Disorders of Purine, Pyrimidine Metabolism
  2. Lesch-Nyhan syndrome
  3. Kelley-Seegmiller syndrome
  4. Adenine phosphoribosyltransferase deficiency
  5. Hereditary xanthinuria
  6. Orotic aciduria
  7. Dihydropyrimidine dehydrogenase deficiency
  8. Dihydropyrimidinase deficiency
  9. Beta-ureidopropionase deficiency
  1. Pyruvate dehydrogenase e1-beta deficiency
  2. Pyruvate dehydrogenase phosphatase deficiency
  3. Pyruvate carboxylase deficiency
  4. Pyruvate decarboxylase deficiency
  5. Leigh syndrome
  6. Cytochrome c oxidase deficiency
  7. De Toni-Debré-Fanconi syndrome
  1. Hyperglycinuria
  2. Sarcosinuria
  3. Imidazole aminoaciduria
  4. Formiminoglutamic aciduria
  5. Carnosinuria
  6. Canavan disease
  7. Glutathione synthetase deficiency
  8. Gamma-glutamyl transpeptidase deficiency
  9. Succinic semialdehyde dehydrogenase deficiency
  10. Hyperpipecolaturia
  11. Neonatal intrahepatic cholestasis caused by citrin deficiency
  12. Beta-aminoisobutyric aciduria

Metascreen® Enrolment Process

Your baby’s first step to a healthy life. Enrolling Metascreen® for your baby now.


Call us for service enrolment and get collection kit.

Sample Collection

Collect your baby’s urine sample when baby is at least 2 days old and has taken at least one feed 24 hours ago.

Sample Pick-up

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.

Real Stories

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 (PKU)

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.

Primary Hyperoxaluria

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

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) Guerrero RB, Kloke KM, Salazar D. Inborn Errors of Metabolism and the Gastrointestinal Tract. Gastroenterol Clin North Am. 2019 Jun;48(2):183-198. 2) Bouatra S, Aziat F, Mandal R, Guo AC, Wilson MR, et al. The Human Urine Metabolome. PLoS ONE. .2013, 8(9): e73076.
3) 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
4) Berdasarkan data internal, Juni 2020.
5) D. Matern, K. Raymond, S. Tortorelli, et al. Improving NBS Performance: The Mayo Clinic Experience Report.