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Test Code SAU Sialic Acid, Free and Total, Random, Urine


Ordering Guidance


This is a recommended screening test for patients suspected to have a diagnosis of free sialic acid storage disease.

Urine oligosaccharides are also recommended for patients with a suspected diagnosis of sialidosis or galactosialidosis.



Necessary Information


Patient's age is required.



Specimen Required


Supplies: Sarstedt 5 mL Aliquot Tube (T914)

Container/Tube: Plastic, 5-mL urine tube

Specimen Volume: 1 mL

Pediatric Volume: 0.5 mL

Collection Instructions: Collect a random urine specimen (early morning preferred).


Genetics Test Information

This is a screening test to detect patients with sialic acid disorders such as free sialic acid storage disorder, sialidosis and galactosialidosis.

Quantitation of free and total sialic acid and the ratio of these are provided.

Specimen Type

Urine

Specimen Minimum Volume

0.5 mL

Specimen Stability Information

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

Reject Due To

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

Reference Values

Free Sialic Acid:

≤4 weeks: ≤208 mmol/mol creatinine

5 weeks-12 months: ≤104 mmol/mol creatinine

13 months-18 years: ≤100 mmol/mol creatinine

≥19 years: ≤38 mmol/mol creatinine

 

Total Sialic Acid

≤4 weeks: ≤852 mmol/mol creatinine

5 weeks-12 months: ≤656 mmol/mol creatinine

13 months-18 years: ≤335 mmol/mol creatinine

≥19 years: ≤262 mmol/mol creatinine

 

Total/Free Ratio:

≤4 weeks: 1.94-18.68

5 weeks-12 months: 2.34-13.85

13 months-18 years: 2.63-9.18

≥19 years: 3.35-15.81

 

An interpretive report will also be provided.

Day(s) Performed

Friday

Report Available

5 to 11 days

Specimen Retention Time

1 month

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

84275