Lebih dari 100+ kondisi Metabolik yang diuji

Gangguan Metabolik Asam dan Asam Organik
  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
Gangguan Metabolik Asam Lemak
  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
Gangguan Metabolik Purin dan Pirimidin
  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
Kelainan Metabolik Bawaan lainnya
  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
Gangguan Metabolik Gula
  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
Gangguan Peroksisom
  1. Zellweger syndrome
  2. Neonatal adrenoleukodystrophy
  3. Infantile Refsum disease
  4. Zellweger-like syndrome
  5. Primary Hyperoxaluria
Gangguan Metabolik Asam Hiperpiruvat dan Asam Laktat
  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

DAFTAR METASCREEN®

Meta 38+

Meta 100+

Untuk informasi lebih lanjut mengenai kondisi-kondisi di atas, kunjungi situs web di bawah ini:
  1. American College of Medical Genetics and Genomics www.acmg.net
  2. Genetics Home Reference ghr.nlm.nih.gov
  3. Online Mendelian Inheritance in Man www.omim.org
  4. Orphanet www.orpha.net
  5. PubMed Pubmed.gov

Disclaimer

Metascreen® merupakan sebuah merek yang terdaftar di Cordlife Group Limited, perusahaan yang terdaftar di Singapore Exchange Mainboard. Pemeriksaan skrining metabolik yang ditawarkan di bawah merek ini dilakukan oleh Cordlife (Hong Kong) Ltd., sebuah laboratorium terakreditasi CAP yang berkomitmen untuk menyediakan pemeriksaan untuk deteksi dini dan akurat kelainan Metabolik pada bayi baru lahir. Cordlife (Hong Kong) Ltd. memiliki kualitas sistem manajemen yang memastikan hasil skrining yang dihasilkan akurat. Seperti halnya tes laboratorium lain, hasil positif palsu atau negatif palsu tidak dapat sepenuhnya dihilangkan karena berbagai alasan, tetapi tidak terbatas pada usia pasien pada saat pengambilan sampel, status kesehatan pasien, kualitas sampel, dan variabel lainnya. Oleh sebab itu, risiko adanya suatu kelainan tidak boleh disingkirkan semata-mata hanya atas dasar skrining. Tanda atau gejala yang diamati harus segera ditindaklanjuti oleh penyedia layanan kesehatan.

*Skrining ini dapat dilakukan untuk anak sampai dengan usia hingga 14 tahun