1). Jonsson, J. J.; Aronovich, E. L.; Braun, S. E.; Whitley, C. B. Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene. Am. J. Hum. Genet. 56: 597-607, 1995.
2). Upadhyaya, M.; Sarfarazi, M.; Bamforth, J. S.; Thomas, N. S. T.; Oberle, I.; Young, I.; Harper, P. S. : Localisation of the gene for Hunter syndrome on the long arm of X chromosome. Hum. Genet. 74: 391-398, 1986.
3). Froissart, R, Da Silva, IM, Maire, I. Mucoploysaccharidosis type II: an update on mutation spectrum. Acta Paediatrica 96: 71-77. 2007.
- Confirmation of a clinical diagnosis of MPS II Disease
- Prenatal testing for known familial mutations.
- Assessment of carrier status in high risk family members - known mutation analysis.
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) or ACD (yellow top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Mucopolysaccharide screen (urine GAG) (GA)
- Known mutation analysis (Custom Diagnostics) is available to test family members.
- Prenatal testing is available for known familial mutations only. Please call the Laboratory Genetic Counselor for specific requirements for prenatal testing before collecting a fetal sample.