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Home | About | A-Z Clinics + Services | Health Info | Research | Patients | Visitors | Careers | Media | Donations + Charities |
National Referral LaboratoryTests, Specimens & Diagnostic RecordData is current to 31st December, 2008 Alphabetical disease index
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| Disorder/Enzyme deficiency | Specimen requirements |
diagnoses |
diagnoses |
a-Mannosidosis
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EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy |
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Fucosidosis
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EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy |
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(1 aff) |
Mucolipidosis I (Sialidosis)
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Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy |
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(0 aff) |
Mucolipidosis II or Mucolipidosis III
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Plasma, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy |
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(11 aff) |
| Galactosialidosis | Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy |
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(3 aff) |
Sialic acid storage disease (Sialuria)
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Urine (frozen) |
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(1 aff) |
Aspartylglucosaminuria
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Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy |
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Last Modified: 30-03-2009 15:08:32 |