Ordering Guidance

This is the preferred test for monitoring effectiveness of treatment in patients with phosphomannomutase 2 deficiency (PMM2-CDG). The preferred test for assessing sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy is SORD / Sorbitol and Xylitol, Quantitative, Random, Urine

Necessary Information

Patient's age is required.

Specimen Required

Supplies: Urine Tubes, 10 mL (T068)

Container/Tube: Plastic, 10-mL urine tube

Specimen Volume: 2 mL

Collection Instructions:

1. Collect a random urine specimen.

2. No preservative.