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.

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# 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),

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





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

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

Arginase

Argininosuccinate lyase (Argininosuccinate aciduria)

Argininosuccinate synthase (Citrullinaemia type I)

Arylsulphatase A -sulphatidase (Metachromatic leukodystrophy)

Asparaginase

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