Mucopolysaccharide Screen


Biochemical Genetics Laboratory Mucopolycassharide Screen

INDICATIONS FOR TESTING:
Mucopolysaccharide analysis of urine is indicated in patients presenting with short stature, coarse facial features, mental retardation, organomegaly, dystosis multiplex, corneal clouding or skeletal abnormalities. This test is meant to help the physician narrow the list of possible enzymes to measure.

METHODOLOGY:
Mucopolysaccharide screening consists of two parts. The first part is an Alcian Blue spot test, which semi-quantitatively estimates the amount of total mucopolysaccharides present. The second part is a thin-layer chromatographic analysis, which distinguishes which mucopolysaccharides are being excreted. Mucopolysaccharides are isolated and purified prior to chromatography.

TURN-AROUND TIME:
Mucopolysaccharide analysis is completed within a time of 3 working days following specimen receipt. Samples are batched.

SPECIMEN REQUIREMENTS:

Urine:

  • Preferred volume: 5.0 mL
  • Absolute minimum: 1.2 mL

Collection Notes:
Mucopolysaccharide excretion varies greatly with age, time of collection and progression of the disease. For these reasons, a 24-hour collection is strongly recommended on patients who are at least one year of age.

Do not use preservatives (especially strong acids).

Shipping and Handling:

  • Optimal: Ship frozen with dry ice in an insulated container
  • Acceptable: Ship thawed with cool pack in an insulated container
  • Use overnight delivery if available.

CPT CODE:

  • Mucopolysaccharide Screen: 83864

FOR MORE INFORMATION, PLEASE CONTACT:
Phone:
(727) 767-8689 (Laboratory)
Fax: (727) 767-8514
E-mail: sbenfor1@jhmi.edu