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Genetics Lab

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Metabolic Screen, Urine

This test is designed to screen for diseases of amino acid metabolism, disorders of renal tubular function, reducing substances (glucose, galactose, fructose, lactose), cystinuria, homocystinuria, mucopolysaccharide storage disease, methylmalonic aciduria, alpha-keto acids (common to many organic acidurias) and urine sulfite (sulfite oxidase and molybdenum cofactor deficiencies). This test is only a screen and should be followed-up with more definitive testing. A negative screen does not rule out metabolic disease when the clinical situation indicates otherwise. This test will not rule out a degenerative disease caused by peroxisomal or most lysosomal storage disorders, may not detect mild variants of some amino acid disorders and will not detect most disorders of organic acid metabolism.

Test Name: Metabolic Screen, Urine
Test Code:
MET SCR
Test Description:
Urine qualitative screen of amino acids, sulfites, reducing substances, alpha-keto acids, ketones, methylmalonic acid, homocysteine and homogentisic acid. Quantitative measurement of mucopolysaccharides
Synonyms:
urine amino acids; mucopolysaccharide; reducing substances; ketones; methylmalonic acid; alpha-keto acids; homocysteine; homogentisic acid
Indication:
This test can be used as a first step in screening a patient suspected of having a metabolic disease. A negative screen does not rule out metabolic disease when the clinical situation indicates otherwise.
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.

Mucopolysaccharide Quantitative Urine  
Quantitative measurement of total glycosaminoglycan excretion in the urine relative to the level of creatinine in the urine. This test is used to screen individuals suspected of having a mucopolysaccharidosis.

Amino Acids, Quantitative  
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.

Clinical Links:
Availability:
Run twice weekly
Turnaround Time:
7 days
Methodology:
Reference Range:
Interpretive report will be provided
Requisition:
Consent Form:
Sample Requirements: Type
Urine: 6-10ml random urine

Processing
Freeze

Shipping
Ship frozen overnight
Samples Received:
Mon - Fri 8:00am - 5:00pm PST
Special Considerations:
Testing patients while asymptomatic may yield false negative results.
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