N-Acetylgalactosamine-6-Sulfate Sulfatase, Fibroblasts

CPT CODE:

USEFUL FOR:

Assisting in the diagnosis of Morquio A disease

SPECIMEN REQUIRED:

This test is not recommended for prenatal testing. Submit only 1 of the following specimens: Cultured Fibroblasts1 T-75 or 2 T-25 flask(s) filled to neck with culture media. (Specimen received in formalin or fixative preservative is not acceptable.) Maintain sterility and forward promptly at ambient temperature.Note:    See "Lysosomal Storage Disorders" in Special Instructions.
Skin BiopsyCollect sterile skin biopsy (4 mm punch) in a sterile, screw-capped container filled with any standard cell culture media (e.g. minimal essential media, RPMI 1640, etc.). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [Supply T115]). (Specimen received in formalin or fixative preservative is not acceptable.) Specimen cannot be frozen. Maintain sterility and forward promptly.Note:    See "Lysosomal Storage Disorders" in Special Instructions.
Pediatric collection instructions same as adult.

TRANSPORT TEMPERATURE:

VariesAmbient\Refrig <24 hours OK\Frozen NO-Cultured FibroblastsRefrig\Ambient OK\Frozen NO-Skin Biopsy

CLINICAL INFORMATION:

A deficiency of N-acetylgalactosamine-6-sulfate sulfatase causesmucopolysaccharidosis IV A (Morquio A disease). Patients excrete excess amounts of keratan sulfate in urine. The patient also has a deficiency in galactose 6-sulfate sulfatase.
Classical Morquio's disease is characterized by progressive skeletal deformity, corneal clouding, and aortic valve disease,but normal intelligence.

CLINICAL INTERPRETATION:

Values <0.5 nmol/hour/mg suggest Morquio A disease.

REFERENCE VALUES:

3.05-12.34 nmol/h/mg