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Diagnostic Services

Genetics Lab

Amino Acid Analysis

Quantitative amino acid analysis can detect specific amino acid disorders such as phenylketonuria (PKU) and maple syrup urine disease (MSUD), and urea cycle defects. Urine amino acids can detect renal transport disorders. Quantitation of amino acids can also be performed on spinal fluid for confirmation of a diagnosis and to assess the degree of brain involvement in metabolic defects of biogenic amine neurotransmitters. Abnormal amino acid patterns provide key information about physiological and pathological metabolic status in patients.

Test Name: Amino Acids, Quantitative
Test Code:
AAQNT, AAQNT FL
Test Description:
Quantitative analysis of amino acids in plasma.
Synonyms:
Indication:
For confirmation of newborn screening results, evaluating patients with episodes of lethary or vomiting suggestive of a metabolic disorder and for follow-up of known patients for assessment of management.
Related Tests: Organic Acid Analysis, Urine  
For confirmation of newborn screening results, evaluating patients with episodes of lethary or vomiting suggestive of a metabolic disorder and for follow-up of known patients for assessment of management

Acylcarnitine Profile, Blood  
For confirmation of newborn screening results, evaluating patients with episodes of lethary or vomiting suggestive of a metabolic disorder and for follow-up of known patients for assessment of management

Metabolic Screen, Urine  
Urine qualitative screen of amino acids, sulfites, reducing substances, alpha-keto acids, ketones, methylmalonic acid, homocysteine and homogentisic acid. Quantitative measurement of mucopolysaccharides.

Clinical Links:
Availability:
Mon-Fri
Turnaround Time:
3 days
Methodology:
Ion Exchange Column Chromatography
Reference Range:
Results are compared to age-matched normal values.
Requisition:
BiochemicalGenetics.pdf
Consent Form:
Sample Requirements: Type
Whole blood: 1 mL Green Top (Heparin)
Random Urine: 1ml
CSF: 1 ml

Processing
Spin blood, freeze plasma in plastic aliquot container. Serum (1ml if handled quickly) is acceptable but not preferred.
Freeze urine or CSF

Shipping
Ship frozen on dry ice
Samples Received:
Mon – Fri 8:00 am – 5:00 pm PST
Special Considerations:
Cost:
Please e-mail Client Services or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Client Services or call at 206-987-2617 with any billing questions