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Test ID AACYL Aminoacylase-1 Deficiency, Urine

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)


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.


Reporting Name

Aminoacylase-1 Deficiency, U

Specimen Type

Urine

Specimen Stability Information

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

Report Available

3 to 9 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AACYL Aminoacylase-1 Deficiency, U 104695-2

 

Result ID Test Result Name Result LOINC Value
621432 Interpretation 59462-2
621428 N-acetylglycine 104696-0
621429 N-acetylalanine 104697-8
621430 N-acetylglutamic acid 104698-6
621431 N-acetylmethionine 104699-4
621433 Reviewed By 18771-6

Forms

1. Biochemical Genetics Patient Information (T602)

2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

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

Day(s) Performed

Monday

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82542

Specimen Minimum Volume

3 mL

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