News

Enrolment closing for 2021 EQAs

6 January 2021

EQA Updates

 

Our full list of EQAs for 2021, including new and updated EQAs is now available for download.

 

The closing date to enrol for 2021 EQAs is 15th January 2021.

 

New EQA for 2021

 

• Aminoglycoside-Induced deafness (Testing of mitochondrial MT-RNR1 m.1555A>G variant)
• Breast cancer (PIK3CA testing)
• Breast cancer – tumour expression profiling
• Exome sequencing data interpretation (Interpretation of trio exome data)
• Gastrohepatology disorders (including Hereditary pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver diease and Intestinal failure. 
• Genetic counselling (Pre/Post-test genetic counselling based on family history/test results)
• ISCN accuracy
• Osteogenesis Imperfecta (OI) (COL1A1 and COL1A2 analysis)
• Primary Immunodeficiencies (PID) (including SCID, agammaglobulinaemia and other PID)
• Renal tumours (somatic)
• Respiratory disorders (including FLCN-related disorders and Pulmonary Arterial Hypertension)
• Thyroid cancer (somatic)
   

Updated EQA for 2021

 

• Chromosome breakage (includes images for cytogenomic analysis and DNA for molecular testing)
• Chronic Lymphocytic Leukaemia (CLL) (previously Mature B&T FISH and Mature B&T G-banding)
• Eye disorders now includes cataract disorders.
• Haematological Technical FISH (previously Technical FISH)
• Lymphoma (previously Lymphoma, Mature B&T FISH and Mature B&T G-banding)
• Neurodegenerative disorders now includes Spinal Bulbar Muscular atrophy
• Next Generation Sequencing (somatic) (separated into two EQAs for submission of either targeted panels or WES/WGS data)
• Prenatal karyotyping (combined Amniotic fluid and Chorionic Villus Sample)
• Recurrent miscarriage karyotyping (previously Blood - postnatal)
• Rapid prenatal testing for common aneuploidies (combined RA-FISH and MRA)
• SCID Newborn screening (increased to six distributions per annum)
• Sex chromosome disorders karyotyping (previously Blood – postnatal and includes Swyer syndrome, Turners syndrome, Klinefelter syndrome)

 

New for 2021: Discounted EQA packages

 

Discount will be applied at invoicing

 

1. Clinical Genetics EQA Package
Enrol in all four Clinical Genetics EQAs and get enrolment for Genetic Counselling EQA for FREE!

 

2. Constitutional Postnatal EQA Package
Enrol in Recurrent miscarriages, Sex chromosome disorders karyotyping and Infertility EQA and save £160

 

3. Molecular Genetic disorders EQA Packages

Option 1: Enrol in 15 EQAs and save £250 (excludes pilot EQAs)

Option 2: Enrol in 20 EQAs and save £600 (excludes pilot EQAs)

 

4. Next Generation Sequencing (NGS) EQA Package
Enrol in NGS germline EQA or NGS somatic panel EQA and save 50% on enrolment in any Classification of variants EQA.

 

5. Preimplantation Genetic Testing (PGT) EQA Package
Enrol in three PGT EQAs and save £40 Submission Languages GenQA are reviewing which languages we can accept for results submissions for 2021.

 

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