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.  

All EQAs scheduled for release during April, May and June 2020 are now POSTPONED.

Last updated: Thursday, 02 April 2020

2020 Pregnancy loss (Molecular methods) (formerly Products of Conception)

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

2020 Preimplantation Genetic Testing (PGT) for monogenic disorders Stage 1

Testing for a specific monogenic disorder (to be decided).

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).

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