EQAs

GenQA provides a wide range of genomic external quality assessments (EQAs) for both laboratory based services, clinical genetics centres and individual interpretation. Full details of all EQAs availabe can be accessed by clicking on the relevant links below.

All EQA reports must be submitted in ENGLISH.  

Last updated: Tuesday, 27 November 2018

2019 Acquired array (CLL/MDS)

Acquired CNV detection - Two DNA samples are distributed from CLL/MDS referrals with clinical case scenarios.

2019 Acute Leukaemia FISH pilot

2019 Acute Leukaemia FISH - fixed cell suspensions distributed for analysis. FISH will include breakapart probes, fusion probes and copy number probes for recurrent aberrations seen in AML, ALL and CML.

2019 Acute Lymphoblastic Leukaemia (ALL)

Acute Lymphoblastic Leukaemia (ALL) - Two clinical ALL case scenarios with G-banded plus FISH images.

2019 Additional lung cancer biomarkers

Testing for additional lung cancer biomarkers - Four formalin-fixed paraffin-embedded (FFPE) tissue samples distributed.

2019 Amniotic fluid

Amniotic Fluid - Two clinical prenatal case scenarios with G-banded (and FISH) images.

2019 Arrhythmia & Cardiomyopathies

Molecular testing for Brugada syndrome, Long QT syndrome, Catecholaminergic polymorphic ventricular tachycardia (CPVT), general arrhythmia and cardiomyopathies. DNA samples are distributed for three clinical case scenarios.

2019 Ataxia & spastic paraplegia

Molecular testing for a neurological ataxia disorders including Friedreich's ataxia, spinocerebellar ataxia and hereditary spastic paraplegia. DNA samples are distributed for three clinical case scenarios.

2019 Blood -postnatal

Blood - Two clinical postnatal case scenarios with G-banded and FISH images.

2019 BRCA testing in ovarian cancer - germline pilot

BRCA testing in ovarian cancer - germline pilot - Three DNA samples distributed with accompanying clinical case scenarios.

2019 BRCA testing in ovarian cancer - somatic pilot

BRCA testing in ovarian cancer - somatic pilot - Three formalin-fixed paraffin-embedded (FFPE) tissue samples distributed with accompanying clinical case scenarios.

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