Confirmatory Organic acid and Fatty acid test (GCMS) + (Compounds)

Compound Name

Diease

Lactic acid-2TMS Methylmalonic Acidemia
2-Hydroxyisobutyric acid-2TMS Propionic Acidemia
Caproic acid-TMS 3-Ketothiolase Deficiency
Glycolic acid-2TMS Isovaleric Acidemia
Glyoxylic acid-oxime-2TMS 3-Methylcrotonyl-CoA Carboxylase Deficiency
Oxalic acid-2TMS Multiple Carboxylase Deficiency
2-Hydroxybutyric acid-2TMS 3-OH-3-Methylglutaric Aciduria
3-Hydroxypropionic acid-2TMS 3-Methylglutaconic Aciduria
Pyruvic acid-oxime-2TMS Glutaric Aciduria Type I
Valproic acid-TMS Glutaric Aciduria Type II ?
3-Hydroxybutyric acid-2TMS 3-OH-Isobutyric Aciduria ?
3-Hydroxyisobutyric acid-2TMS 5-Oxoprolinuria ?
2-Hydroxyisovaleric acid-2TMS 2-Hydroxyglutaric Acidemia ?
2-Methyl-3-hydroxybutyric acid-2TMS 4-Hydroxybutyric Aciduria
Malonic acid-2TMS Mevalonic Aciduria
3-Hydroxyisovaleric acid-2TMS Glyceroluria ?
2-Keto-isovaleric acid-oxime-2TMS Primary Hyperoxaluria Type I ?
Methylmalonic acid-2TMS L-Glyceric Acidemia ?
(Primary Hyperoxaluria Type II ?  )
2-ethyl-3-OH-propionic-2TMS 2-Ketoadipic Aciduria ?
Urea-2TMS Alcaptunuria
4-Hydroxybutyric acid-2TMS Urea Cycle Disorder ?  / OTC Deficiency?
2-Hydroxyisocaproic acid-2TMS Phenylketonuria
3-Hydroxyvaleric acid-2TMS Maple Syrup Urine Disease
Acetoacetic acid-2TMS Tyrosinemia Type I
2-Hydroxy-3-Methylvaleric acid-2TMS MCAD Deficiency?
Benzoic acid-TMS Canavan Disease
Acetoacetic acid-oxime-2TMS Lactic Aciduria (Condition)
Octanoic acid-TMS Respiratory chain disease
2-keto-3-methylvaleric-ox-2 Ketosis (Condition)
2-Methyl-3-hydroxyvaleric acid-2TMS Dicarboxylic Aciduria
Glycerol-3TMS Ketotic dicarboxylic aciduria?
Phosphoric acid-3TMS Non-ketotic dicarboxylic aciduria?
Acetylglycine-TMS 3-Hydroxydicarboxylic Aciduria (Condition)
Ethylmalonic acid-2TMS Zellweger Syndrome
2-Methyl-3-hydroxyvaleric acid-2TMS(2) Metabloic disorders of purine and pyrimidine
2-Ketoisocaproic acid-oxime-2TMS Valproic acid treatment?
Phenylacetic acid-TMS Ethosuccimide treatment?
Maleic acid-2TMS Glycerol treatment ?
Succinic acid-2TMS Carbocysteine administration?
Methylsuccinic acid-TMS Aspirin administration?
Glyceric acid-3TMS Sodium benzoate administration?
Fumaric acid-2TMS MCT milk feeding?
Uracil-2TMS Food containing vanilla taking?
Propionylglycine-TMS Special fomula containing vanilla feeding
Acetylglycine-2TMS Ascorbic acid infusion?
Mevalonolactone-TMS Neonatal transient hypertyrosinemia?
mevalonolactone-origin fragment Severe liver dysfunction?
Isobutyrylglycine-TMS Hypoxia?
2-propyl-3-hydroxy-pentanoic acid-2TMS Acetonemic vomiting?
Mesaconic acid-2TMS Neuroblastoma?
Glutaric acid-2TMS
3-Methylglutaconic acid-2TMS
3-Methylglutaric acid-2TMS
2-Propyl-3-ketopentanoic acid-2TMS
Propionylglycine-2TMS
Isobutyrylglycine-2TMS
2-Deoxytetronic acid-3TMS
Butyrylglycine-TMS
3-Methylglutaconic acid(E)-2TMS
Glutaconic acid-2TMS
succinylacetone-ox-origine fragment
decanoic-1
2-Propyl-5-OH-pentanoic(VPA)-2
3-methylglutaconic-2(3)
isovalerylglycine-1
Butyrylglycine-2TMS
Malic acid-3TMS
Adipic acid-2TMS
Phenyllactic acid-2TMS
Isovalerylglycine-2TMS
2-Hexenedioic acid-2TMS
5-Oxoproline-2TMS
Thiodiglycolic acid-2TMS
3-Methyladipic acid-2TMS
2-Propyl-glutaric acid-2TMS
7-Hydroxoctanoic acid-2TMS
5-Hydroxy-2-furoic acid-2TMS
Tiglylglycine-2TMS
3-Methylcrotonoylglycine-TMS
Tiglylglycine-TMS
3-Methylcrotonoylglycine-2TMS
3-Hydroxyglutaric acid-3TMS
2-Hydroxyglutaric acid-3TMS
Pimelic acid-2TMS
3-Hydroxy-3-methylglutaric acid-3TMS
3-Hydroxyphenylacetic acid-2TMS
4-Hydroxybenzoic acid-2TMS
2-Ketoglutaric acid-oxime-3TMS
4-Hydroxyphenylacetic acid-2TMS
2-Ketoglutaric acid-oxime-3TMS
Hexanoylglycine-2TMS
Phenylpyruvic acid-oxime-2TMS
N-Acetylaspartic acid-2TMS
2-Hydroxyadipic acid-3TMS
Octenedioic acid-2TMS
3-Hydroxyadipic acid-3TMS
Suberic acid-2TMS
3-Methylglutaconic acid-2TMS
2-Keto-adipic-OX-3
Aconitic acid-3TMS
Orotic acid-3TMS
Vanillic-2 (3-Methoxy-4-hydroxybenzoic acid-2TMS)
Homovanillic acid-2TMS
Azelaic acid-2TMS
Hippuric acid-2TMS
Isocitric acid-4TMS
Citric acid-4TMS
Hippuric acid-TMS
Homogentisic acid-3TMS
Methylcitric acid-4TMS
3-(3-Hydroxyphenyl)-3-hydroxypropionic acid-3TMS
Methylcitric acid-4TMS
3-Hydroxyoctenedioic acid-3TMS
3-Hydroxysuberic acid-3TMS
Vanilmandelic acid-3TMS
Sebacic acid-2TMS
Decadienedioic acid-2TMS
4-Hydroxyphenyllactic acid-3TMS
4-Hydroxyphenylpyruvic acid-oxime-2TMS
2-Hydroxyhippuric acid-3TMS
3-Indoleacetic acid
Palmitic acid TMS
2-Hydroxysebacic acid -3TMS
3-Hydroxysebacic acid -3TMS
2-Hydroxyhippuric acid-2TMS
Dodecanedioic acid-2TMS
N-Acetyltyrosine-3TMS
Uric acid-4TMS
3,6-Epoxydodecanedioic acid-2TMS
Suberylglycine-2TMS
3-hydroxydodecanedioic acid-3TMS
3,6-Epoxytetradecanedioic acid-2TMS

Newborn Screening for Inherited Metabolic Diseases (MS/MS) + (Compounds)

Compound Name

Diease

Ala (Alanine)

Amino Acid Disorders

Fatty Acid Oxidation Disorders

Organic Acid Disorders

Arg (Arginine) Phenylketonuria (PKU) CACT deficiency Methylmalonic acidemia (MMA)
Asp (Aspartic Acid) Maple Syrup Urine Disease (MSUD) CPT-1 deficiency Isovaleric  acidemia (IVA)
Cit (Citrulline) Homocystinuria (HCY) CPT-2 deficiency Multiple carboxylase deficiency (MCD)
Glu (Glutamic Acid) Tyrosinemia TFP deficiency MCC deficiency
Gly (Glycine) Citrullinemia (Cit) SCHAD deficiency Ketothiolase deficiency
Leu (Leucine) Argininosuccinic acidemia MCAD deficiency OH-3-methylglutaric acidemia
Met (Methionine) Argininemia VLCAD deficiency Propionic acidemia (PA)
Orn (Ornitine) Primary carnitine deficiency Glutaric acidemia (GA)
Phe (Phenylalanine)
Pro (Proline)
Tyr (Tyrosine)
Val (Valine)
C0 (Free Carnitine)
C2 (Acetylcarnitine)
C3 (Propionylcarnitine)
C4 (Butyrylcarnitine)
C4OH (Hydroxybutyrylcarnitine) + C3DC (Malonylcarnitine)
C5OH (Hydroxyisovalerylcarnitine) + C4DC (Methylmalonylcarnitine)
C5 (Isovalerylcarnitine)
C5:1 (Tiglylcarnitine)
C5DC (Glutarylcarnitine)+ C6OH (Hydroxyhexanoylcarnitine)
C6 (Hexanoylcarnitine)
C8 (Octanoylcarnitine)
C8:1 (Octenoylcarnitine)
C10 (Decanoylcarnitine)
C10:1 (Decenoylcarnitine)
C12 (Dodecanoylcarnitine)
C14 (Tetradecanoylcarnitine)
C14:1 (Tetradecenoylcarnitine)
C14:2 (Tetradecadienoylcarnitine)
C14OH (Hydroxytetradecanoylcarnitine)
C16 (Hexadecanoylcarnitine)
C16:1 (Hexadecenoylcarnitine)
C16:1OH (Hedroxyhexadecenoylcarnitine)
C16OH(Hydroxyhexadecanoylcarnitine)
C18 (Octadecanoylcarnitine)
C18:1 (Octadecenoylcarnitine)
C18:1OH (Hydroxyoctadecenoylcarnitine)
C18:2OH (3-Hydroxylinoleoylcarnitine)
C18OH (Hydroxyoctadecanoylcarnitine)

Confirmatory test for Newborn Screening Inherited Metabolic Diseases (MS/MS) in Plasma, Serum, Urine, Amniotic Fluid + (Compounds)

Compound Name

Diease

Ala derivatised VLCFA
Asp der. MCAD
Glu der. SCAD
Leu der. VLCFA
Isoleu der.
Met der.
Phe der.
Tyr der.
Val der.
Arg der.
Cit der.
Gly der.
Orn der.
Pro der.
Thr der.
Ser der.
His der.
Lys der.
Trp der.
ASA der.
Succ der.
C0 der.
C2 der.
C3 der.
C3DC der.
C4 der.
C4:1 der.
C4OH der.
C4DC der.
C5 der.
C5:1 der.
C5OH der.
C5DC der.
C6 der.
C6:1 der.
C6DC der.
C8 der.
C8:1 der.
C8DC der.
C10 der.
C10:1 der.
C10DC der.
C12 der.
C12:1 der.
C12DC der.
C14 der.
C14:1 der.
C14:2 der.
C14OH der.
C16 der.
C16OH der.
C16:1OH der.
C16:1 der.
C18 der.
C18:1 der.
C18:2 der.
C18OH der.
C18:1OH der.
C18:2OH der.
C20 der.
C22 der.
C24 der.
C26 der.
C28 der.
0
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  1. تامین اجتماعی (عادی ، خاص ، ماما)
  2. خدمات درمانی (کارکنان دولت ، خدمات ایرانیان ، روستائیان ، سایر اقشار)
  3. نیروی مسلح
  4. بانک ها : بانک ملی ، ملت ، صادرات ، سپه ، رفاه ، کشاورزی ، تجارت ، صنعت و معدن
  5. کمیته امداد
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  7. کارکنان فولاد و ذغال سنگ
  8. شرکت نفت
  9.  بیمه ایران
  10. صدا و سیما
  1. بیمه آتیه سازان حافظ
  2. بیمه آرمان
  3. بیمه پارسیان
  4. بیمه ما
  5. بیمه دانا
  6. بیمه آسیا
  7. بیمه نوین
  8. بیمه البرز
  9. بیمه دی
  10. بیمه رازی