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Test Code NAACD N-Acetylaspartic Acid, Canavan Disease, Random, 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.


Secondary ID

621423

Useful For

Diagnosis and monitoring of individuals with Canavan disease

 

Follow-up quantitation of abnormal organic acid elevations of N-acetylaspartic acid

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  90 days
  Ambient  14 days

Reject Due To

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

Reference Values

≤50.00 mmol/mol creatinine

Interpretation

When abnormal results are detected, a detailed interpretation is given including an overview of the results and of their significance; a correlation to available clinical information; elements of differential diagnosis; recommendations for additional biochemical testing and in vitro confirmatory studies (enzyme assay, molecular analysis).

Method Description

Urine volumes equivalent to 0.25 to 0.50 mg of creatinine are spiked with the mixture of labeled internal standards, allowed to equilibrate, acidified, and then extracted. After evaporation, the dry residue is derivatized to butyl esters. Specimens are analyzed by capillary gas chromatography mass spectrometry selected ion monitoring using ammonia chemical ionization and a stable isotope dilution method.(Unpublished Mayo method)

Day(s) Performed

Monday

Report Available

3 to 9 days

Specimen Retention Time

2 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83921

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NAACD N-acetylaspartic acid, U 76023-1

 

Result ID Test Result Name Result LOINC Value
621425 Interpretation 59462-2
621424 N-acetylaspartic acid 76023-1
621426 Reviewed By 18771-6