Newborn Screening is the most effective way to detect congenital metabolic disorders. The screening list primarily includes congenital diseases that, if diagnosed early (before symptoms appear) and treated correctly, can result in almost full recovery. Conversely, delayed treatment can lead to irreversible processes, mainly manifesting as delays in physical and mental development and damage to internal organs.
While newborn screening is strictly recommended in Germany, it is not mandatory—it remains the parents’ choice. In Georgia, newborns are routinely screened on the third day for only three diseases: Congenital Hypothyroidism, Phenylketonuria, and Cystic Fibrosis.
The “Mrcheveli” Medical Center laboratory offers a Standard Newborn Screening, a practice well-established in Germany. The study covers up to 49 primary diseases from the following groups:
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Congenital metabolic disorders
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Endocrine diseases
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Hemoglobinopathies
List of Diseases:
1. Congenital Hypothyroidism (TSH)
2.Congenital Adrenal Hyperplasia (CAH/AGS) – 21-hydroxylase deficiency
3.Classic Galactosemia (Gal+ Gal-1P, Galactose-1P uridyltransferase deficiency)
4.Biotinidase Deficiency (Profound)
5.Cystic Fibrosis (Immunoreactive Trypsinogen (IRT)) – Evaluated in infants <8 weeks old.
Amino Acid Metabolism Disorders:
6. Hyperphenylalaninemia (HPA)
7. Phenylketonuria (PKU)
8. Maple Syrup Urine Disease (MSUD)
9. Argininemia
10. Argininosuccinate Lyase Deficiency
11. Hypo- and Hyper-methioninemia
12. Ornithine Transcarbamylase Deficiency
Fatty Acid Oxidation Disorders:
13. Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
14. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
15. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
16. Mitochondrial Trifunctional Protein (mTFP) deficiency
17. Carnitine Palmitoyltransferase 1 (CPT1) deficiency
18. Carnitine Palmitoyltransferase 2 (CPT2) deficiency
19. Carnitine-Acylcarnitine Translocase (CAT) deficiency
Organic Acid Disorders:
20. Glutaric Acidemia (Aciduria), Type 1 (GA 1)
21. Isovaleric Acidemia (IVA)
22. Tyrosinemia, Type 1
23. Tyrosinemia, Type 2
24. Severe Combined Immunodeficiency (SCID) – Evaluated in infants <1 year old.
25. Carnitine Transporter Defect 26. Citrullinemia
27. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
28. Propionic Acidemia
29. Multiple Acyl-CoA Dehydrogenase Deficiency (Glutaric Aciduria Type II)
30. Methylmalonic Aciduria 31. Malonic Acidemia
Vitamin B12 Metabolism Disorders:
32. Methylmalonic Aciduria and B12 metabolism disorders
33. CblD – Cobalamin D defect
34. CblE – Cobalamin E defect
35. CblG – Cobalamin G defect
Remethylation Disorders:
36. MTHFR – Severe 5,10-methylenetetrahydrofolate reductase deficiency
37. Aromatic L-amino acid decarboxylase deficiency
Additional Parameters (Conducted within scientific research):
38. Homocystinuria
39. 3-Methylcrotonyl-CoA carboxylase deficiency
40. 3-Hydroxy-3-methylglutaric aciduria
41. Holocarboxylase synthetase deficiency
42. ß-Ketothiolase deficiency
43. Methylmalonic acidemia with homocystinuria
44. 2-Methylbutyryl-CoA dehydrogenase deficiency
45. Combined malonic and methylmalonic aciduria
46. Spinal Muscular Atrophy (5q-associated SMA, SMN1 gene analysis)
47. Genetic analysis of Cystic Fibrosis (CFTR gene) for the most common <30 mutations
48. Glucose-6-phosphate dehydrogenase (G6PD) deficiency
49. Sickle Cell Anemia, Thalassemia (Screening)
Specimen for research: Capillary blood (from the heel or finger) or venous blood. Note: Cord blood is not used for this study.
Recommended timeline for sample collection:
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36–72 hours after birth.
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For Cystic Fibrosis screening: <8 weeks of age.
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For SCID screening: up to 1 year of age.
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For metabolic diseases: samples can be taken at any pediatric age, though it is preferable within the first 2 months, as symptoms may be absent or mild during this period.
Please note: This is a screening test only. In the event of an abnormal result, additional tests are necessary to confirm or rule out a specific disease, which will be indicated as a comment in the test results.
Turnaround time: 7–10 days. Testing Location: The study is conducted at the Screening Laboratory for Metabolic Disorders (Hannover, Germany) – www.metabscreen.de.
For additional information, please contact us: 032 2 93 10 00