women's and children's hospital adelaide

National Referral Laboratory

Tests, Specimens & Diagnostic Record

Data is current to 31st December, 2008

Alphabetical disease index

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MUCOPOLYSACCHARIDOSES (MPS)

Urine Analysis: Our laboratory protocol is to always analyse the pattern of excretion of mucopolysaccharide molecules in urine by high resolution electrophoresis prior to embarking on enzyme analysis for this group of disorders. A urine specimen should thus always be sent in any situation where a disorder of mucopolysaccharide catabolism is suspected. ($)

Disorder	Specimen requirements	Postnatal diagnoses	Prenatal diagnoses
MPS I (Hurler/Scheie) Urine analysis alpha-L-iduronidase ($) Mutation analysis ($) Mutation searching ($) Protein analysis	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	157	110 (16 aff)
MPS II (Hunter) Urine analysis Iduronate-2-sulphatase ($) Mutation analysis ($) Mutation searching ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	155	27 (13 aff)
MPS III (Sanfilippo) Type A Urine analysis Sulphamidase (glucosamine-N-sulphatase) ($) Mutation analysis (various common) ($) Mutation searching ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	88	32 (7 aff)
MPS III (Sanfilippo) Type B Urine analysis alpha-N-Acetylglucosaminidase ($) Mutation searching ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	62	13 (3 aff)
MPS III (Sanfilippo) Type C Urine analysis Glucosamine-N-acetyl transferase ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	9	1 (None aff)
MPS III (Sanfilippo) Type D Urine analysis N-acetylglucosamine-6-sulphatase ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	5	1 (None aff)
MPS IV (Morquio) Type A Urine analysis N-acetylgalactose-6-sulphatase ($) Mutation analysis ($) Mutation searching ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	78	29 (9 aff)
MPS IV (Morquio) Type B Urine analysis Keratan sulphate b-galactosidase ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	None diagnosed	None performed
MPS VI (Maroteaux-Lamy) Urine analysis N-acetylgalactosamine-4-sulphatase ($) Mutation analysis ($) Mutation searching ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	57	18 (4 aff)
MPS VII Urine analysis b-glucuronidase ($) (included in neurolipidoses screen)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	7	2 (None aff)

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