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Testing Criteria

 
 
 

How the criteria for tests are defined

The UKGTN has developed the concept of Testing Criteria as part of the Gene Dossier application process. Testing Criteria in essence define the appropriateness of a genetic test referral, and it is intended that the test is only carried out in accordance with the criteria set out in the Gene Dossier and approved by the UKGTN and GenCAG.

Testing Criteria should include only those data that are specified within the Gene Dossier, and should not be confused with any other information that a provider laboratory may wish to have for research or any other reasons. The additional benefit of these criteria is that they can inform clinicians’ decisions about which investigations are appropriate.

A Testing Criteria template must be completed as part of a Gene Dossier application. It has been a requirement of the gene dossier application since June 2005. More details about Testing Criteria are presented in the papers below.

 

Approved Testing Criteria Forms

Laboratories' testing criteria forms for specific tests are available below. To download the form click the corresponding link for the test.

East Anglian Molecular Genetics Laboratory (Cambridge) - Diagnostic member

Allan-Herdon-Dudley Syndrome (16 Kb) Autosomal recessive primary microcephaly (MCPH) (19 Kb) Distal Renal Tubular Acidosis (15 Kb) Familial Juvenile Hyperuricemic nephropathy and Medullary Cystic Kidney Disease Type 2 (18 Kb) Frontotemporal dementia with Parkinsonism-17 (17 Kb) Liddle syndrome (15 Kb)

London North East Thames RGC (Great Ormond Street Hospital) - Diagnostic member

Dilated Cardiomyopathy (28 Kb) Hypertrophic Cardiomyopathy (27 Kb) Hypertrophic Cardiomyopathy familial mutation (24 Kb) Nepthrotic Syndrome, Steroid-Resistant, Autosomal Recessive (18 Kb) Van der Woude & Popoliteal Pterygium Syndrome (16 Kb)

London South East RGC (Guys and St Thomas') - Diagnostic member

Congenital Muscular Dystrophy With Glycosylation Defects (67 Kb) Ullrich congenital muscular dystrophy (17 Kb)

North West RGC - Diagnostic member

Costello syndrome (15 Kb) Nepthrotic Syndrome, Steroid-Resistant, Autosomal Recessive (16 Kb)

Oxford RGC - Diagnostic member

Antley Bixler Syndrome (15 Kb) Cardiac Arrhythmia including the LQTs (26 Kb) Dilated Cardiomyopathy (29 Kb) Hypertrophic Cardiomyopathy (28 Kb) Hypertrophic Cardiomyopathy familial mutation (25 Kb) Craniofrontonasal syndrome (16 Kb) Greig Cephalopolysyndactly (16 Kb) Pallister-Hall Syndrome (16 Kb)

Sheffield Molecular Genetics Service - Diagnostic member

Ehlers Danlos (Vascular) (19 Kb) Haemophilia A (18 Kb) Haemophilia B (18 Kb) Osteogenesis Imperfecta type 2 (16 Kb) Osteogenesis Imperfecta type 4 (15 Kb)
Last updated 18-Apr-2008 17:27:18
 
 
 
 
 
 
 
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