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Biochemical Genetics Testing:
Amino Acids (Full Profile) Plasma, Urine, or CSF
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Amino acids serve as key building blocks and as an energy source for cell repair, survival, regeneration and growth.
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Amino acids disorders (also called aminoacidopathies) are a group of inborn errors of metabolism diseases, caused by the inherited defects in pathways involved in amino acids metabolism.
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All primary amino acids disorders follow an autosomal recessive mode of inheritance which means that the mutation caused a metabolic block is present in the genetic material of both parents.
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As a result of mutation, the inherited defect is reflected downstream as a lack or a partial biological activity of enzymes involved in amino acids metabolism. Consequently, some substrates in these pathways accumulate or are diverted into alternative pathways.
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Therefore, amino acids disorders are biochemically characterized by abnormal levels of single or several amino acids and their downstream plasma and/or urine metabolites.
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Most common metabolic amino acid disorders are Phenylketonuria (PKU) and Maple syrup urine disease (MSUD).
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This test quantifies the following Amino Acids:
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Phosphoserine
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Taurine
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Phosphoethanolamine
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Aspartic Acid
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Hydroxyproline
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Threonine
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Serine
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Asparagine
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Glutamic Acid
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Glutamine
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a-Aminoadipic Acid
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Proline
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Glycine
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Alanine
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Citrulline
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a-Amino-n-butyric Acid
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Valine
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Cystine
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Methionine
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Cystathionine
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Isoleucine
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Allo-Isoleucine
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Leucine
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Tyrosine
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b-Alanine
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Phenylalanine
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b-Aminoisobutyric Acid
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Homocystine
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g-Aminobutyric Acid
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Ethanolamine
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Hydroxylysine
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Ornithine
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Lysine
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1-Methylhistidine
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Histidine
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Tryptophan
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3-Methylhistidine
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Anserine
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Carnosine
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Arginine
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Available Tests
Turnaround Time = 48-72 hours, priority given to critically ill patients and infants less than one year of age
Test ID | Test Name | Disease | Technology |
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501 | Amino Acids (Full Profile) | Inborn Errors of Metabolism | High Pressure Liquid Chromatography (HPLC) |