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DIVISION OF LABORATORY MEDICINE

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National Referral Laboratory

National Referral Laboratory

Tests, Specimens & Diagnostic Record

Data is current to 31st December, 2008

Alphabetical disease index

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

ORGANIC AND AMINO ACID DISORDERS

Disorder/Enzyme deficiency	Specimen requirements	Postnatal diagnoses	Prenatal diagnoses
Cystinosis S35 cystine metabolism ($)	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	34	35 (9 aff)
Isovaleric acidaemia 2-C14 leucine metabolism ($)	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	3	4 (2 aff)
Maple syrup urine disease 1-C14 leucine metabolism ($)	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	15	22 (5 aff)
Canavan disease (aspartylacylase deficiency) Molecular analysis (E285A,Y231X and A305E) ($)	EDTA blood, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy or any source of DNA for molecular analysis.	5	1 (0 aff)
Galactosaemia (Classical form) Galactose-phosphate uridyl transferase (GALT) activity ($) Molecular analysis (Q188R) ($)	Washed erythrocytes, skin biopsy, cultured cells (skin fibroblasts, chorionic villus or amniotic cells) or any source of DNA for molecular analysis.	20	13 (4 aff)
Galactosaemia (Duarte variant) Galactose-phosphate uridyl transferase (GALT) activity ($) Molecular analysis (N314D) ($)	Washed erythrocytes (frozen) or any source of DNA for molecular analysis.	7	0
Citrullinaemia C14 citrulline metabolism ($)	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	11 5 citrull 6 ASA lyase def	21 (4 aff)
Ornithine transcarbamylase deficiency Ornithine transcarbamylase ($)	Liver biopsy or tissue (only)	12	3 (2 aff)
Carbamoyl phosphate synthetase deficiency Carbamoyl phosphate synthetase ($)	Liver biopsy or tissue (only)	3	0
Medium chain Acyl CoA dehydrogenase deficiency Medium chain Acyl CoA dehydrogenase ($) Molecular analysis (K329E) ($)	EDTA blood (10mL), cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy or any source of DNA for molecular analysis.	23	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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