National Referral Laboratory

Tests, Specimens & Diagnostic Record

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 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.

The leucocyte lysosomal enzyme panel, very long chain fatty acid analysis and phytanic acid analysis are performed weekly. Other enzyme assays performed on demand, usually within 2 weeks of receiving the sample. Most mutation analyses are performed within 2 weeks of receiving the sample. 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.

Data is current to 31st December, 2008

Alphabetical disease index

A

• Acid maltase deficiency (GSD II, Pompe disease)
• Acyl CoA oxidase deficiency
• Adrenoleucodystrophy (ALD), neonatal
• Adrenoleucodystrophy (ALD), X-linked
• Adrenomyeloneuropathy (AMN), X-linked
• ALD, X-linked
• Amino acidurias
• Argininosuccinic aciduria (Argininosuccinate lyase deficiency)
• Aspartylglucosaminuria

B

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

C

• Canavan disease (aspartylacylase deficiency)
• Carbamoyl phosphate synthetase deficiency
• CDG - general
• CDG Ia
• CDG Ib
• Cerebrotendinous xanthomatosis (CTX)
• Cholesterol ester storage disease (CESD)
• Chondrodysplasia punctata 2, X-linked dominant (CDPX2)
• Citrullinaemia
• CLN1 (ceroid lipofuscinosis neuronal, type 1)
• CLN2 (ceroid lipofuscinosis neuronal, type 2)
• CLN3 (ceroid lipofuscinosis neuronal, type 3)
• Congenital disorders of glycosylation (CDG) - separate entries for CDG Ia and CDG Ib
• Conradi-Hunermann syndrome (CDPX2)
• Cori disease (GSD III)
• CPS deficiency
• CPT I deficiency
• CPT II deficiency
• Cystic Fibrosis
• Cystinosis

D

• D-bifunctional protein deficiency
• Duarte variant (galactosaemia)

F

• Fabry disease
• Farber's disease
• Fucosidosis

G

• Galactosaemia, classical form
• Galactosaemia, Duarte variant
• Galactosialidosis
• Gaucher disease
• 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 IX

H

• Hers disease (GSD VI)
• Hunter syndrome (MPS II)
• Hurler syndrome (MPS I)
• Hurler/Scheie syndrome (MPS I)
• Hyperoxaluria, type I

I

• I-cell disease (Mucolipidosis II)
• Ichthyosis, X-linked
• Iduronidase deficiency (MPS I)
• Infantile neuronal ceroid lipofuscinosis (CLN1)
• Infantile Refsum disease
• Isovaleric acidaemia

J

• Jansky-Bielschowsky disease (CLN2)
• Juvenile neuronal ceroid lipofuscinosis (CLN3, Batten disease)

K

• Krabbe disease

L

• Late-infantile neuronal ceroid lipofuscinosis (CLN2)
• Lesch-Nyhan syndrome
• Leucocyte enzyme panel (Neurolipidosis screen)
• Lysosomal enzyme panel (Neurolipidosis screen)

M

• a-Mannosidosis
• Maple syrup urine disease (MSUD)
• Maroteaux-Lamy syndrome
• McArdle disease (GSD V)
• Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
• Metachromatic leucodystrophy (MLD)
• Metachromatic leucodystrophy due to Saposin B deficiency
• a-Methylacyl-CoA racemase deficiency
• 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 (Sly syndrome)
• Mucolipidosis I (Sialidosis)
• Mucolipidosis II (I-cell disease) or Mucolipidosis III
• Mucopolysaccharidoses
• Multiple sulphatase deficiency

N

• Neuraminidase deficiency with ß-galactosidase deficiency (Galactosialidosis)
• Neurolipidoses
• Neurolipidosis 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

O

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

P

• Peroxisomal biogenesis disorders
• Peroxisomal disorders
• Pompe disease (GSD II, acid maltase deficiency)
• Pseudo-arylsulphatase A deficiency

R

• Racemase deficiency
• RCDP
• Refsum disease, adult onset
• Refsum disease, Infantile
• Rhizomelic chondrodysplasia punctata (RCDP)

S

• Sandhoff disease (GM2-gangliosidosis type 2)
• Sanfilippo syndromes A, B, C & D
• Santavuori disease (CLN1)
• Saposin B deficiency
• Scheie syndrome
• Sialic acid storage disease (Sialuria)
• Smith-Lemli-Opitz (SLO) syndrome
• Steroid sulphatase deficiency (X-linked ichthyosis)

T

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

V

• Vogt-Spielmeyer disease (CLN3)
• Von Gierke disease (GSD Ia)

W

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

X

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

Z

• Zellweger syndrome

Disease group index

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

Back to National Referral Laboratory Home Page

^TOP	FEEDBACK | SITE INDEX | DISCLAIMER | CONTACT | COPYRIGHT | PRIVACY Printer-friendly version Last Modified: 30-03-2009 15:07:54