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Assay Directory

Our assay directory has changed slightly. All the same assays are on there but to find the specimen details, click on the test you are looking for and then the lab you will likely send your sample to. The lab specific specimen requirements will be shown on the corresponding page from the lab directory.

Using the search box you can search using a disorder or test. Searching for a lab name will allow you to see all the tests available from that location.

# 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

There are currently 22 Assays in this directory beginning with the letter A.

A

Acetyl CoA alpha-glucosaminide -N-Acetyltransferase (MPS-IIIC, Sanfilippo C),

Manchester-Willink , LONDON-GOSH – ,Acyl carnitines

Manchester-Willink , Cardiff , Sheffield , Cambridge , Leeds , Bristol-Southmead , Liverpool , Dublin , Birmingham , Glasgow , London-GST , Belfast , Southampton - , Newcastle , LONDON-GOSH , London-UCLH ,

Adenine phosphoribosyltransferase (APRT deficiency)

Adenosine deaminase (ADA deficiency)

Adenylosuccinate lyase (ADSL deficiency)

Adolase A

Alanine-glyoxylate aminotransferase (Hyperoxaluria type 1)

Aldolase B - fructose-1-phosphate aldolase (Hereditary fructose intolerance)

Alpha-fucosidase (fucosidosis)

Manchester-Willink , Edinburgh , Birmingham Glasgow , LONDON-GOSH , Bristol-Royal-Infirmary , London-GST

Alpha-galactosidase A (Fabry disease)

Manchester-Willink , Edinburgh , Birmingham , Glasgow - , LONDON-GOSH , Bristol-Royal-Infirmary , London-GST

Alpha-glucosidase - acid maltase (GSD Type II – Pompe disease)

Manchester-Willink , Edinburgh , Birmingham , Glasgow , LONDON-GOSH , London-GST

Alpha-iduronidase,(MPS Type I – Hurler or Sheie)

Manchester-Willink , Edinburgh , Glasgow , LONDON-GOSH , Bristol-Royal-Infirmary , London-GST

Alpha-mannosidase (Alpha-mannosidosis)

Manchester-Willink , Edinburgh , Birmingham , Glasgow , LONDON-GOSH , Bristol-Royal-Infirmary , London-GST

Amino acids (qualitative)

Manchester-Willink , Cardiff , Sheffield , Leeds , Birmingham , LONDON-GOSH , Nottingham

Amino acids (quantitative),

Manchester-Willink , Cardiff , Sheffield , Cambridge , Leeds , Bristol-Southmead , Edinburgh , Liverpool , Dublin , Birmingham , Glasgow ,London London-UCLH , Belfast , Southampton - , Newcastle , LONDON-GOSH , Bristol-Royal-Infirmary , London-GST , Nottingham

Amylo-1,4:1,6-transglucosylase- branching enzyme (GSD Type IV)

Amylo-1,6-glucosidase - debranching enzyme (GSD Type III)

Manchester-cmft , LONDON-GOSH

Arginase

Argininosuccinate lyase (Argininosuccinate aciduria)

Manchester-Willink , LONDON-GOSH , London-GST

Argininosuccinate synthase (Citrullinaemia type I)

Manchester-Willink , LONDON-GOSH , London-GST

Arylsulphatase A -sulphatidase (Metachromatic leukodystrophy)

Manchester-Willink , Edinburgh , Birmingham - , Glasgow , LONDON-GOSH , Bristol-Royal-Infirmary , London-GST

Asparaginase

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