EQAs

GenQA provides a wide range of genomic external quality assessments (EQAs) for both laboratory based services, clinical genetics centres and individual assessment
Full details of all EQAs availabe can be accessed by clicking on the relevant links below. 
The closing date for registration for the 2020 EQAs is 28th February 2020.

Last updated: Thursday, 17 October 2019

2020 Charcot Marie Tooth disease (CMT) and related sensory and motor neuropathies

Molecular testing for Charcot Marie Tooth disease (CMT), Hereditary Liability to Pressure Palsies (HNPP), Hereditary Motor and Sensory Neuropathy (HMSN).

2020 Chorionic Villus (CVS)

Online analysis of G-banded metaphase images and other tests, as applicable, for the detection of aneuploidy and rearrangements.

2020 Chromosome Breakage syndromes

Cytogenomic detection of chromosome breakage in Fanconi anaemia and other breakage disorders.

2020 Circulating free DNA (cfDNA) testing in lung cancer (pilot)

Circulating free DNA(cfDNA) testing for EGFR variant in plasma for lung cancer . Details to be confirmed including cost of participation.

2020 Clinical Genetics - Cardiovascular Genetics

Online educational case scenario with multiple stages.

2020 Clinical Genetics - Dysmorphology

Online educational case scenario with multiple stages.

2020 Clinical Genetics - Monogenic Disorders

Online educational case scenario with multiple stages.

2020 Clinical Genetics - Oncogenetics

Online educational case scenario with multiple stages.

2020 Cystic fibrosis (CF) and CFTR-related disorders

Molecular testing for cystic fibrosis (CF) and CFTR-related disorders.

2020 Disorders of Sexual Development (DSD)

Testing for Androgen Insensitivity syndrome (AIS), Congenital Adrenal Hyperplasia (CAH) and SHOX syndrome.

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