Expanded Neonatal Screening Test – 140 diseases – Tamizmas – Latin America

It is important to detect these inborn errors of metabolism as early as possible, as many of them are treatable and can be successfully treated if detected early. The test that we offer you analyzes 140 different pathologies, all of them treatable, which means that you can be sure that if a problem is detected, there is a solution available.

The test is very simple to perform and can be done at home. with a capillary blood sample, which is drawn from the finger. There is no need to go to the hospital or laboratory, which makes it very comfortable and convenient.

It is especially important to rule out these pathologies in those who have been diagnosed with autism, since some of the pathologies have similar symptoms and can be confused with autism. This test can help rule out these pathologies and obtain an accurate diagnosis.

Previous considerations

• You must specify on the form if you are taking any medication.
• If you have received a blood transfusion, you must wait at least 72 hours before performing the test.

List of all diseases that are evaluated in the test

1. Congenital hypothyroidism
2. hyperthyrotropinemia
3. Salt-losing variety congenital adrenal hyperplasia
4. Simple virilizing congenital adrenal hyperplasia
5. Cystic fibrosis
6. Glucose 6-phosphate dehydrogenase deficiency
7. Hemoglobin S disease
8. Hemoglobin C disease
9. Hemoglobin S/C Disease
10. Hemoglobin E disease
11. Hemoglobin D disease
12. Sickle cell disease with beta thalassemia
13. Hemoglobin C disease with beta thalassemia
14. Hemoglobin E disease with beta thalassemia
15. Hemoglobin H disease
16. Hemoglobin S disease with alpha thalassemia trait
17. Hemoglobin S/C disease with alpha thalassemia trait
18. Philadelphia Hemoglobin G Disease
19. Hemoglobin G disease with alpha thalassemia trait
20. beta thalassemia major
21. Increased excretion of Catecholamine Metabolites (+Neuroblastoma)
22. Hyperalimentation Syndrome
23. Vitamin B12 deficiency
24. gyrate atrophy
25. Defects of Maternal Vitamin B12 Synthesis/Intake
26. 2-Methyl 3-Hydroxybutyric acidemia
27. 2-4 Dienoil-CoA Reductase
28. Systemic Carnitine Deficiency
29. Maternal Carnitine Synthesis/Intake Defects
30. 2-Methylbutyrylglycinuria 2MBG
31. Classic Phenylketonuria (Phenylalanine Hydroxylase Deficiency)
32. Hyperphenylalaninemia by defect in Biopterin Biosynthesis
33. Hyperphenylalaninemia by defect in Biopterin Regeneration
34. Benign hyperphenylalaninemia
35. Alpha-Methyl Aceto Acetic Aciduria
36. alkaptonuria
37. Dihydrolipoyl Dehydrogenase (E3) deficiency
38. Familial Iminoglycinuria
39. Hartnup disease
40. Hydroxyprolinemia
41. Hyperleukine-Isoleukinemia
42. iminoglycinuria
43. 2-Ketoadipidic aciduria
44. Lysinuria with protein intolerance
45. 3-Methyl glutaconic aciduria
46. Semialdehyde Methylmalonic Dehydrogenase Deficiency
47. Mevalonic aciduria
48. Ornithine Transcarbamylase (OTC) Deficiency
49. Valinemia
50. canavan disease
51. Sarcosinemia
52. cystathioninuria
53. Hyperprolinemia Type I
54. Type II hyperprolinemia
55. saccharopinuria
56. Xanthurenic aciduria
57. Formiminoglutamic aciduria
58. Glutathionuria
59. Histidinemia
60. Homocarnosinosis
61. Histidinuria
62. hydroxylysinuria
63. Tryptophanuria
64. Beta-aminoisobutyric aciduria
65. Pipecolic acidemia
66. Imidazolic ammonoaciduria
67. Hyperglycinuria (ketotic)
68. 3-Hydroxybutyryl CoA-deacylase deficiency
69. Neonatal cholestasis due to citrin deficiency
70. cystinuria
71. Methylmalonic Acidemia with Homocystinuria Cb1 c, Cb1 d
72. Aminoacylase I deficiency
73. 4-Hydroxybutyric aciduria
74. lysinuria
75. Carbamoil Phosphate Synthetase Deficiency
76. 5-Oxoprolinuria
77. Secondary tyrosinemia Hepatic dysfunction
78. Neonatal Transient Tyrosinemia
79. Tyrosinemia Type I (Hepatorenal)
80. Tyrosinemia Type II (Oculocutaneous)
81. Tyrosinemia Type III (Hawkinsinuria 4HPPD)
82. argininemia
83. Arginosuccinic acidemia
84. Citrullinemia Due to Arginosuccinate Synthetase Deficiency
85. Citrullinemia Due to Citrin Deficiency
86. Triple HHH Syndrome
87. Homocystinuria
88. Neonatal Hypermethioninemia
89. Nonketotic Hyperglycinemia
90. Classic Maple Syrup Urine Disease
91. Intermediate Maple Syrup Urine Disease
92. 3-Methylcrotonyl CoA Carboxylase deficiency
93. Glutaric Acidemia Type I
94. 3-Hydroxy-3-Methylglutaryl-Coa-Lyase Deficiency
95. Isobutyryl-CoA Dehydrogenase Deficiency
96. isovaleric acidemia
97. malonic acidemia
98. Methylmalonic acidemia mut-
99. Methylmalonic acidemia mut 0
100. Propionic acidemia
101. Multiple Acyl CoA Dehydrogenase Deficiency
102. ethylmalonic acidemia
103. Multiple Carboxylase Deficiency
104. Biotinidase deficiency
105. Fumarase deficiency
106. Pyruvate decarboxylase deficiency
107. Pyruvate carboxylase deficiency
108. Pyruvate Dehydrogenase Deficiency (E1)
109. Pyruvate dehydrogenase phostaphase deficiency
110. Leigh's syndrome
111. Zellweger-Like syndrome
112. Zellweger syndrome
113. Primary Hyperoxaliuria Type 1
114. Child Refsum
115. Neonatal Adrenoleukodystrophy
116. Primary Hyperoxaliuria Type 2
117. Trifunctional Protein Deficiency
118. LCAD (Long Chain Acyl-CoA Dehydrogenase) deficiency
119. Short Chain 3-Hydroxy-Acyl CoA Dehydrogenase Deficiency (SCHAD)
120. SCAD (short-chain dehydrogenase acyl-CoA dehydrogenase) deficiency
121. MCAD (medium chain acyl-CoA dehydrogenase) deficiency
122. VLCAD (Very Long Chain Acyl-CoA Dehydrogenase) deficiency
123. Fructose 1,6-Diphosphatase deficiency
124. sucrosuria
125. D-Glyceric Aciduria
126. Lactose intolerance
127. Galactokinase deficiency
128. Galactose Epimerase Deficiency
129. fructosuria
130. Transient Galactosemia
131. Duarte Variant Galactosemia
132. Classic Galactosemia (galactose 1-phosphate uridyltransferase deficiency)
133. Lesch–Nyhan syndrome
134. Dihydropyrimidase deficiency
135. Orotic aciduria
136. Dihydropyrimiduria
137. Xanthinuria
138. Adenosine Deaminase Deficiency
139. Adenine-phosphoribosyl transferase deficiency
140. Partial Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency