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Orderable Name AACYL Aminoacylase-1 Deficiency, Urine


Necessary Information


1. Patient's age and sex are required.

2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.



Specimen Required


Supplies: Urine Tubes, 10 mL (T068)

Container/Tube: Plastic, 10-mL urine tube

Specimen Volume: 10 mL

Pediatric: If insufficient collection volume, submit as much specimen as possible in a single container; the laboratory will determine if volume is sufficient for testing.

Collection Instructions:

1. Collect a random urine specimen (first morning void preferred).

2. No preservative.


Useful For

Follow-up quantitation of abnormal organic acid elevations of N-acetylated amino acids, in particular N-acetylalanine, N-acetylglycine, N-acetylmethionine, and N-acetylglutamic acid

 

Diagnosis of individuals with aminoacylase-1 deficiency

 

Evaluating patients with neurologic and psychiatric symptoms of unknown etiology

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

Specimen Type

Urine

Specimen Minimum Volume

3 mL

Specimen Stability Information

Specimen Type Temperature Time
Urine Frozen (preferred) 90 days
  Refrigerated  60 days

Reject Due To

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability

Reference Values

N-acetylglycine: ≤15.00 mmol/mol creatinine

N-acetyl alanine: ≤10.00 mmol/mol creatinine

N-acetylglutamic acid: ≤20.00 mmol/mol creatinine

N-acetylmethionine: ≤5.00 mmol/mol creatinine

Day(s) Performed

Monday

Report Available

3 to 9 days

CPT Code Information

82542