Data is current to 31st August, 2001

This page contains a list of the disorders tested in our laboratory. The list is focussed on lysosomal and peroxisomal disorders but also includes other genetic disorders for which there are reliable biochemical test protocols existing in the laboratory.

This page can be navigated in various ways. You can search our Alphabetical disease index (above) for links to tests for a specific disorder, jump using the Disease group index, or search by disease name, enzyme name or any other text word using the Netscape Find button.

The disease names are also cross referenced to OnLine Mendelian Inheritance in Man (OMIM). Click a disorder to find out the latest information.

Enzyme analyses are performed weekly and most mutation analyses are performed within 10 days. The turn-around time for prenatal diagnoses depends on the approach (direct analysis or cell culture) but every effort is made to provide the speediest result for the patient.

Alphabetical disease index

• Acyl CoA oxidase deficiency
• Adrenoleucodystrophy (ALD), neonatal
• Adrenoleucodystrophy (ALD), X-linked
• Adrenomyeloneuropathy (AMN), X-linked
• Amino acidurias
• Aspartylglucosaminuria

• Batten's disease, infantile
• Batten's disease, juvenile
• Batten's disease, late-infantile
• D-bifunctional protein deficiency

• Canavan disease (aspartylacylase deficiency)
• Carbamoyl phosphate synthetase deficiency
• CDG
• Cerebrotendinous xanthomatosis
• Cholesterol ester storage disease
• Citrullinaemia
• Congenital disorders of glycosylation (CDG)
• Cori disease
• CPS deficiency
• CPT I deficiency
• CPT II deficiency
• Cystic Fibrosis
• Cystinosis

• Duarte variant (galactosaemia)

• Fabry disease
• Farber's disease
• Fucosidosis

• Galactosaemia, classical form
• Galactosaemia, Duarte variant
• Galactosialidosis
• Gaucher disease
• Glutaric aciduria type II
• Glycerol kinase deficiency
• Glycogen storage disorders (GSDs)
• GM1 gangliosidosis
• GM2 gangliosidosis type 1 (Tay-Sachs disease)
• GM2 gangliosidosis type 2 (Sandhoff disease)
• GSD Ia (Von Gierke disease)
• GSD II (Pompe disease)
• GSD III (Cori disease)
• GSD V (McArdle disease)
• GSD VI (Hers disease)
• GSD VIII

• Hers disease
• Hunter syndrome
• Hurler syndrome
• Hurler/Scheie syndrome
• Hyperoxaluria, type I

• I-cell disease (Mucolipidosis II)
• Ichthyosis, X-linked
• Iduronidase deficiency (MPS I)
• Infantile neuronal ceroid lipofuscinosis (Batten's disease)
• Infantile Refsum's disease
• Isovaleric acidaemia

• Jansky-Bielschowsky disease (LINCL)
• Juvenile neuronal ceroid lipofuscinosis (Batten's disease)

• Krabbe disease

• Late-infantile neuronal ceroid lipofuscinosis (Batten's disease)
• Lesch-Nyhan syndrome
• Leucocyte enzymes (Neurolipidoses screen)
• Lysosomal enzymes (Neurolipidoses screen)

• Mannosidosis
• Maple syrup urine disease (MSUD)
• Maroteaux-Lamy syndrome
• Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
• Metachromatic leucodystrophy (MLD)
• Morquio syndromes A & B
• MPS urine screen
• MPS I (inc. Hurler, Hurler/Scheie and Scheie syndromes)
• MPS II (Hunter syndrome)
• MPS III (Sanfilippo syndromes) A, B, C & D
• MPS IV (Morquio syndromes) A & B
• MPS VI (Maroteaux-Lamy syndrome)
• MPS VII
• Mucolipidosis I (Sialidosis)
• Mucolipidosis II (I-cell disease) or Mucolipidosis III
• Mucopolysaccharidoses
• Multiple sulphatase deficiency

• Neuraminidase deficiency with ß-galactosidase deficiency (Galactosialidosis)
• Neurolipidoses
• Neurolipidoses screen
• Neuronal ceroid lipofuscinosis, infantile
• Neuronal ceroid lipofuscinosis, juvenile
• Neuronal ceroid lipofuscinosis, late-infantile
• Niemann-Pick disease types A & B
• Niemann-Pick disease type C

• Oligosaccharidoses
• Organic acidurias
• Ornithine transcarbamylase deficiency
• ß-oxidation defects

• Peroxisomal disorders
• Pompe disease
• Pseudo-arylsulphatase deficiency

• RCDP
• Refsum's disease, adult onset
• Refsum's disease, Infantile
• Rhizomelic chondrodysplasia

• Sandhoff disease (GM2 gangliosidosis type 2)
• Sanfilippo syndromes A, B, C & D
• Santavuori disease (INCL)
• Scheie syndrome
• Sialic acid storage disease (Sialuria)
• Smith Lemli Opitz syndrome
• Steroid sulphatase deficiency
• Systemic carnitine deficiency

• Tay-Sachs disease (GM2 gangliosidosis type 1)
• Thiolase deficiency

• Vogt-Spielmeyer disease (JNCL)
• Von Gierke disease

• White cell enzymes (Neurolipidoses screen)
• Wolman's disease (Cholesterol ester storage disease)

• X-linked adrenoleucodystrophy (ALD)
• X-linked adrenomyeloneuropathy (AMN)
• X-linked ichthyosis

• Zellweger syndrome

Disease group index

Neurolipidoses
Mucopolysaccharidoses
Peroxisomal disorders
Glycogen storage disorders
Oligosaccharidoses
Organic and amino acidurias
Miscellaneous

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NEUROLIPIDOSES

Neurolipidoses Screen (or White Cell/Lysosomal Enzymes): Our laboratory offers a first-tier screen for lysosomal storage disorders using 14 lysosomal enzymes (cost). The screen requires 10mL EDTA blood or the corresponding leucocytes but can also be performed on cultured cells (preparation costs). The enzyme assays included are:

• b-galactosidase (GM1-gangliosidosis)
• b-hexosaminidase A (Tay-Sachs disease)
• total hexosaminidase A (Sandhoff disease)
• arylsulphatase A (metachromatic leucodystrophy)
• b-glucocerebrosidase (Gaucher disease)
• b-galactocerebrosidase (Krabbe disease)
• sphingomyelinase (Niemann-Pick disease types A & B)
• a-fucosidase (Fucosidosis)
• a-mannosidase (Mannosidosis)
• acid lipase (Wolman's disease)
• b-glucuronidase (MPS VII)
• acid phosphatase (control lysosomal enzyme)
• Plasma a-N-acetylgalactosaminidase and a-mannosidase (I-cell disease, mucolipidosis type III and Schindler's disease)

Disorder/Enzyme deficiency	Specimen requirements	Postnatal diagnoses	Prenatal diagnoses
GM1 gangliosidosis ß-galactosidase ($) (included in neurolipidoses screen)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $)	26	25 (6 affected)
GM2 gangliosidosis, Type I (Tay-Sachs disease) b-hexosaminidase A ($) (included in neurolipidoses screen) Carrier testing ($) Mutation analysis (pseudo-deficiency) ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $)	35	42 (5 affected)
GM2 gangliosidosis, Type 2 (Sandhoff disease) Total b-hexosaminidase ($) (included in neurolipidoses screen)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $)	12	13 (1 affected)
Metachromatic leucodystrophy Sulphatidase (arylsulphatase A) ($) (included in neurolipidoses screen) Mutation analysis ($) Mutation searching ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $)	64	38 (12 affected)
Multiple sulphatase deficiency Various sulphatases	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $)	6	2 (None affected)
X-linked ichthyosis Steroid (DHEAS) sulphatase ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $)	15	5 (1 affected)
Pseudo arylsulphatase deficiency Sulphatidase (Arlysulphatase A) ($) Mutation analysis ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $)	28	Not required
Fabry disease Trihexosylceramidase (a-galactosidase) ($) Mutation analysis ($) Mutation searching ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $)	54	3 (None affected)
Krabbe disease b-galactocerebrosidase ($) (included in neurolipidoses screen) Mutation analysis (30kb deletion) ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $)	31	45 (10 affected)
Niemann-Pick disease types A and B Sphingomyelinase ($) (included in neurolipidoses screen)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $)	20	5 (2 affected)
Niemann-Pick disease type C Cholesterol esterification ($) Filipin staining ($) Mutation analysis (I1061T mutation) ($) Mutation searching ($)	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy (prep $)	27	9 (None affected)
Gaucher disease b-glucocerebrosidase ($) (included in neurolipidoses screen) Mutation analysis (including the recombinant variants) ($) Chitotriosidase (for monitoring therapy) ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $) Serum (preferred) or plasma required for chitotriosidase	115	27 (5 affected)
Wolman’s disease and Cholesterol ester storage disease Cholesteryl oleate acid lipase ($) (included in neurolipidoses screen)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $)	5	4 (1 affected)
Farber’s disease Ceramidase ($)	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy (prep $)	1	None

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/Enzyme deficiency	Specimen requirements	Postnatal diagnoses	Prenatal diagnoses
MPS I (Hurler/Scheie) Urine analysis alpha-L-iduronidase ($) Mutation analysis ($) Mutation searching ($) Protein analysis	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	88	75 (12 affected)
MPS II (Hunter) Urine analysis Iduronate-2-sulphatase ($) Mutation analysis ($) Mutation searching ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	62	35 (7 affected)
MPS III (Sanfilippo) Type A Urine analysis Sulphamidase (glucosamine-N-sulphatase) ($) Mutation analysis (various common) ($) Mutation searching ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	56	23 (5 affected)
MPS III (Sanfilippo) Type B Urine analysis alpha-N-Acetylglucosaminidase ($) Mutation searching ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	36	16 (2 affected)
MPS III (Sanfilippo) Type C Urine analysis Glucosamine-N-acetyl transferase ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	4	None
MPS III (Sanfilippo) Type D Urine analysis N-acetylglucosamine-6-sulphatase ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	4	None
MPS IV (Morquio) Type A Urine analysis N-acetylgalactose-6-sulphatase ($) Mutation analysis ($) Mutation searching ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	46	20 (5 affected)
MPS IV (Morquio) Type B Urine analysis Keratan sulphate ß-galactosidase ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	None	None
MPS VI (Maroteaux-Lamy) Urine analysis N-acetylgalactosamine-4-sulphatase ($) Mutation analysis ($) Mutation searching ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	33	13 (1 affected)
MPS VII Urine analysis ß-glucuronidase ($) (included in neurolipidoses screen)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	1	2 (None affected)

Disorder/Enzyme deficiency	Specimen requirements	Postnatal diagnoses	Prenatal diagnoses
X-linked adrenoleucodystrophy Very long chain fatty acids ($) Mutation analysis ($) Mutation searching ($)	EDTA blood (10mL), cultured cells (skin fibroblasts, chorionic villus or amniotic cells), plasma, tissue (fresh, frozen or fixed), skin biopsy. DNA from any source for mutation or linkage studies	87	46 (12 affected)
X-linked adrenomyeloneuropathy Very long chain fatty acids ($) Mutation analysis ($) Mutation searching ($)	EDTA blood (10mL), cultured cells (skin fibroblasts, chorionic villus or amniotic cells), plasma, tissue (fresh, frozen or fixed), skin biopsy. DNA from any source for mutation or linkage studies	24	None
Refsum's disease (adult onset) Phytanic acid ($) Phytanic acid oxidation ($)	Plasma/serum, tissue (fresh, frozen or fixed) or EDTA blood (10mL) for phytanic acid analysis. Cultured cells or skin biopsy for phytanic acid oxidation studies	14	None
Zellweger syndrome Very long chain fatty acids (plasma) ($) Dihydroxyacetonephosphate acyl transferase ($) Cellular catalase distribution ($) Mutation analysis (PEX1) ($)	EDTA blood (10mL), cultured cells (skin fibroblasts, chorionic villus or amniotic cells), plasma, tissue (fresh, frozen or fixed) or skin biopsy for VLCFA. Cultured cells or skin biopsy for DHAP-AT or catalase studies	22	63 (19 affected)
Neonatal adrenoleucodystrophy Very long chain fatty acids (plasma) ($) Cellular catalase distribution ($) Mutation analysis (PEX1) ($)	EDTA blood (10mL), cultured cells (skin fibroblasts, chorionic villus or amniotic cells), plasma, tissue (fresh, frozen or fixed) or skin biopsy for VLCFA analysis. Cultured cells or skin biopsy for catalase studies	9	2 (None affected)
Infantile Refsum's disease Very long chain fatty acids (plasma) ($) Cellular catalase distribution ($) Mutation analysis (PEX1) ($)	EDTA blood (10mL), cultured cells (skin fibroblasts, chorionic villus or amniotic cells), plasma, tissue (fresh, frozen or fixed) or skin biopsy for VLCFA analysis. Cultured cells or skin biopsy for catalase studies	15	4 (None affected)
Rhizomelic chondrodysplasia punctata (RCDP) Phytanic acid (plasma) ($) Dihydroxyacetonephosphate alkyl synthase ($) Phytanic acid oxidation ($) Mutation analysis (PEX7) ($)	EDTA blood (10mL), cultured cells (skin fibroblasts, chorionic villus or amniotic cells), plasma, tissue (fresh, frozen or fixed) or skin biopsy for VLCFA analysis. Cultured cells or skin biopsy for DHAP alkyl synthase studies	13	6 (1 affected)
Hyperoxaluria Type I Glyoxalate (aspartate) aminotransferases ($)	Liver biopsy only	2	None
ß-oxidation defects Saturated VLCFA ($) Mutation analysis (D-bifunctional protein) ($) acyl CoA oxidase deficiency bifunctional protein deficiency thiolase deficiency	EDTA blood (10mL), plasma, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy, frozen or fixed tissue.	2	1 (None affected)

Other tests available to differentiate various peroxisomal disorders

• Pristanic acid ($)
  • EDTA blood (10mL), plasma, fresh frozen tissue
• Bile acid intermediates ($), pipecolic acid ($)
  • EDTA blood (10mL), plasma
• Plasmalogens ($)
  • Washed erythrocytes
• Pristanic acid oxidation
  • Cultured skin fibroblasts, skin biopsy
• Fibroblast complementation studies (please contact laboratory)
  • Skin fibroblasts, skin biopsy

Disorder/Enzyme deficiency	Specimen requirements	Postnatal diagnoses	Prenatal diagnoses
GSD type Ia (Von Gierke) Glucose-6-phosphatase ($)	Liver biopsy only	4	None
GSD II (Pompe) a-1,4-glucosidase ($) Blood spot a-1,4-glucosidase ($)	Cultured cells, skin biopsy, muscle biopsy/tissue. Fresh blood on Guthrie card for blood spot analysis.	33	46 (16 affected)
GSD III (Cori) ‘Debrancher enzyme’ ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), muscle biopsy/tissue	8	None
GSD V (McArdle) Muscle Phosphorylase ($)	Muscle biopsy	5	None
GSD VI (Hers) Liver Phosphorylase ($)	Liver biopsy	13	None
GSD VIII Phosphorylase ‘b’ kinase ($)	Liver, muscle biopsy	5	None

Disorder/Enzyme deficiency	Specimen requirements	Postnatal diagnoses	Prenatal diagnoses
Mannosidosis a-mannosidase ($) (included in neurolipidoses screen)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	10	None
Fucosidosis a-fucosidase ($) (included in neurolipidoses screen)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy	2 (+1 feline)	1 (None affected)
Mucolipidosis I (Sialidosis) Neuraminidase ($)	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	3	1 (None affected)
Mucolipidosis II or Mucolipidosis III Various lysosomal enzymes ($) (included in neurolipidoses screen)	Plasma, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	23	15 (7 affected)
Galactosialidosis Neuraminidase ($) ß-galactosidase ($)	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	2	None
Sialic acid storage disease (Sialuria) Sialic acid ($)	Urine (frozen)	8	6 (1 affected)
Aspartylglucosaminuria Aspartamido-ß-acetylglucosaminidase	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	2	None

Disorder/Enzyme deficiency	Specimen requirements	Postnatal diagnoses	Prenatal diagnoses
Cystinosis S35 cystine metabolism ($)	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	27	31 (9 affected)
Isovaleric acidaemia 2-C14 leucine metabolism ($)	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	2	4 (2 affected)
Maple syrup urine disease 1-C14 leucine metabolism ($)	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	6	13 (3 affected)
Canavan disease (aspartylacylase deficiency) Molecular analysis (E285A,Y231X and A305E) ($)	EDTA blood, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy or any source of DNA for molecular analysis.	2 homozygotes 3 heterozygotes	1 (No affected)
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.	16	11 (3 affected)
Galactosaemia (Duarte variant) Galactose-phosphate uridyl transferase (GALT) activity ($) Molecular analysis (N314D) ($)	Washed erythrocytes (frozen) or any source of DNA for molecular analysis.	7	None
Citrullinaemia C14 citrulline metabolism ($)	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	6	13 (2 affected)
Ornithine transcarbamylase deficiency Ornithine transcarbamylase ($)	Liver biopsy or tissue (only)	5	1 (1 affected)
Carbamoyl phosphate synthetase deficiency Carbamoyl phosphate synthetase ($)	Liver biopsy or tissue (only)	1	None
Glycerol kinase deficiency Glycerol kinase ($)	EDTA blood (10mL), cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	2	1 (None affected)
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.	5	None

Disorder/Enzyme deficiency	Specimen requirements	Postnatal diagnoses	Prenatal diagnoses
Cystic fibrosis Mutation analysis DF508, G551D, G542X, R553X, DI506, 621+1G>T, A455E, N1303K, R117H/C, poly-T, 3849+10kbC>T ($) Microvillar enzyme analysis for prenatal diagnosis ($)	EDTA blood (10mL), cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy or DNA from any source Cell free amniotic fluid (17-18 weeks gestation)	228	91 (15 affected)
Smith Lemli Opitz syndrome 7-dehydrocholesterol ($)	Plasma/serum, EDTA blood (10mL), cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy, amniotic fluid, tissues (frozen or formalin fixed)	11	17 (2 affected)
Congenital disorders of glycosylation (CDG) Transferrin isoform analysis ($) Phosphomannomutase ($) Phosphomannose isomerase ($) Mutation analysis (PMM2) ($) Mutation searching (PMM2) ($)	SERUM required for transferrin isoform analysis. EDTA blood (10mL), cultured cells, (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy for enzyme assays.	5	None
Infantile neuronal ceroid lipofuscinosis (INCL; Infantile Batten's disease) Palmitoyl-protein thioesterase ($) Molecular analysis (R151X) ($)	Cultured cells (skin fibroblasts, chorionic villus or amniotic cells) or skin biopsy for enzyme analysis. Cultured cells, EDTA blood (10mL) or leucocytes for mutation analysis.	2	0
Late-infantile neuronal ceroid lipofuscinosis (LINCL; Late-infantile Batten's disease) Tripeptidyl peptidase I ($) CLN2 mutation analysis (R208X, 3556G>C, 3556G>A) ($) CLN2 mutation searching ($)	EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy (prep $)	9	None
Juvenile neuronal ceroid lipofuscinosis (JNCL; Juvenile Batten's disease) CLN3 mutation analysis (1kb deletion) ($) CLN3 mutation searching ($)	EDTA blood, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy or any source of DNA for molecular analysis.	2	0
Cerebrotendinous xanthomatosis Bile alcohols ($) (note that cholestanol is not usually assayed)	Urine preferred (random, frozen, no preservative, 10-50mL) Plasma/serum	2	None
Systemic carnitine deficiency Carnitine ($)	Plasma/serum	None	None
CPT I deficiency Carnitine palmitoyl transferase I ($)	Muscle, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	2	None
CPT II deficiency Carnitine palmitoyl transferase II ($)	Muscle, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	2	None
Lesch-Nyhan syndrome Hypoxanthine-guanine phosphoribosyl transferase (HGPRT'ase) ($)	EDTA blood (10mL), washed erythrocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy	3	None