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Expanded Neonatal Screening Test – 140 diseases – Sieves – Argentina

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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
Laborarotio TamizMas

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Product Information

Requirements

Consent

Analysis laboratory

SieveMore

Laboratory/Entity of your country

Type of sample

Urine
Capillary blood (drawn from the finger)

Results delivery time

22 days from the time the sample arrives at the laboratory.

Test mode

home kit

Collection of results

Results are received by email

Additional shipping costs

The cost of a sample is 175 USD

customs management

Does not require

Additional Instructions

The sample collection kit, the administrative management of the samples and the shipment with Fedex, will be paid directly to the IICT laboratory of Rosario, part of the cost of the test.

The contact person is Franco Pongeli +54 9 3413 20-1729.

The costs of a sample are 38,000 pesos*/100 Usd

Group shipping costs of 10 samples are 26,000 pesos */68 Usd per sample.

(The lab will wait until 10 samples are collected and they will send them together.)

* Tied to the blue dollar exchange rate of the day *

Collaborating laboratory/entity

ARGENTINA

Laboratory IICT LABS
1220 Miter Street
S2000BHX
ROSARY BEADS
SANTA FE, ARGENTINA.
+543414484517
www.iictlabs.com
iict@iictlabs.com
CUIT: 33-70874216-9

Contact person:
Coordinator Franco Pongelli
+543413201729
fpongelli@iictlabs.com

Logo Bio Abordajes del Autismo

Collaborating laboratory/entity

ARGENTINA

Autism Bioapproach Foundation:
Department 1ºC
Juan Agustin Garcia 2780
(1419) Villa, Santa Rita.
CABA, Argentina

Reports: autismobio@gmail.com
+54 11 6825-8726
Studies: bioabordajesdelautismo@hotmail.com
+54 11 5062-0709

Contact person:
adriana peralta
Biomedical nutritional advice
Master of Disability
President of the Autism Bioapproach Foundation.

More information

PDF 1 – Sample Collection Instructions

PDF 2 – SievePlus Form

PDF 3 – Frequently Asked Questions

  1. Sampling for Neonatal Screening

sampling-for-neonatal-screening

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