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 Preimplantation Genetic Testing (PGT): Blastomere FISH (Stage 1 & 2)

Two case scenarios where one partner carries a balanced rearrangement and requests PGD.

2020 Preimplantation Genetic Testing (PGT): Polar Bodies (NGS or array)

DNA analysis of polar body 1 and 2 from the same patient for array/NGS analysis for the detection of aneuploidy and/or large rearrangements.

2020 Preimplantation Genetic Testing (PGT): Trophectoderm or Blastomere (aneuploidies by NGS or array)

DNA analysis using NGS or array analysis for the detection of aneuploidy

2020 Prenatal constitutional Copy Number Variation (CNV) detection (previously Prenatal microarray)

DNA analysis using arrays/NGS to detect aneuploidy and unbalanced structural rearrangements.

2020 Rapid Prenatal Aneuploidy (FISH)

Fixed prenatal cell suspensions for aneuploidy FISH detection only (chromosomes 13, 18, 21, X and Y).

2020 Renal disorders

Molecular testing for haematuria and cystic kidney disease.

2020 Respiratory Disorders

Molecular testing for FLCN-related disorders and Pulmonary Arterial Hypertension (PAH).

2020 Sarcoma

Testing of FFPE samples for sarcoma rearrangements/amplifications.

2020 Severe Developmental Delay (pilot)

Online case scenario with sequential multiple stages requring interpretation of molecular/cytogenetic test results.

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