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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GLYCOGEN STORAGE DISEASES

The glycogen storage disorders often cannot be diagnosed reliably using blood or cultured cells. Further, there is significant tissue specificity in the expression of the various enzymes involved with glycogen metabolism. Therefore, tissue that is involved directly with the pathology is often required for enzyme analysis (eg, liver or muscle). Please contact the laboratory for further advice.

Disorder and tests (Click on disease to jump to OMIM page or on "$" for test charge)	Specimen requirements (Click on sample type for specimen collection and shipping details or on "prep $" for sample preparation charges)	Postnatal diagnoses	Prenatal diagnoses
GSD type Ia (Von Gierke) Glucose-6-phosphatase ($)	Liver biopsy only	19	0
GSD II (Pompe) Biochemical testing: At this time, leucocytes are not suitable for diagnostic testing for Pompe disease. a-1,4-glucosidase analysis can be performed on dried blood spots ($), cultured skin fibroblasts ($) or muscle tissue ($). We recommend that urine also be sent together with any dried blood spot or EDTA blood samples. This will be used to test for (Glc)4 tetrasaccharide, which is elevated in Pompe disease. Molecular testing: Not available Prenatal testing: ($) Prenatal testing is available. We strongly recommend that this be performed by: direct analysis of a-1,4-glucosidase activity in CV tissue (TAT 1 week) Testing can also be performed by: analysis of a-1,4-glucosidase activity in cultured CV cells or amniocytes (TAT 2-3 weeks) Note that it is very important that the laboratory is contacted prior to any prenatal testing as samples from the proband and/or parents are routinely required before any prenatal analysis. Further information on prenatal testing can be obtained on the Prenatal diagnoses page.	Biochemical testing: For dried blood spot analysis we require EDTA blood (10mL) or a Guthrie card (dried blood spots). Other suitable samples: cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen muscle tissue or a skin biopsy (prep $) Urine (10-20mL, sent frozen, freeze-dried or on filter paper) Prenatal testing: Direct a-1,4-glucosidase analysis requires at least 7mg of dissected CVS (preferably 10mg). Cultured cell analysis requires dissected CVS, whole amniotic fluid or cultured CV cells or amniocytes.	72	61 (22 aff)
Tests	Specimens	Postnatal	Prenatal
GSD III (Cori) ‘Debrancher enzyme’ ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), muscle biopsy/tissue	21	0
GSD V (McArdle) Muscle Phosphorylase ($)	Muscle biopsy	7	0
GSD VI (Hers) Liver Phosphorylase ($)	Liver biopsy	2	0
GSD IX Phosphorylase ‘b’ kinase ($)	Liver, muscle biopsy	7	0

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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