Building 9 Contact: Dr Catherine Sturgeon BioQuarter Tel: +44 (0)131-2426885 Little France Road Fax: +44 (0)131-242-6882 E-Mail: c.sturgeon@ed.ac.uk Websites: http://edqas.org EH16 4UX Proficiency Testing provided from the locations specified below s covered by the organisation and their relevant activities details Activity code Building 9 BioQuarter Little France Road EH16 4UX Local contact Dr Catherine Sturgeon Contact details as above Main office Scheme management and administration BQ Department of Laboratory Medicine Royal Infirmary of 51 Little France Crescent EH16 4SA Local contact Dr Catherine Sturgeon Contact details as above Scheme operations Laboratory services RIE Assessment Manager: JR1 Page 1 of 5
DETAIL OF ACCREDITATION Biochemistry Schemes: UK NEQAS Peptide Hormones Scheme Participants Handbook, available at http://edqas.org Human serum, plasma, urine, blood and/or dried blood spots Peptide hormones I Follicle stimulating hormone (FSH) Luteinising hormone (LH) Prolactin (PRL) Growth hormone (hgh) Anti-Müllerian hormone (AMH) Peptide hormones II Parathyroid hormone (PTH) Adrenocorticotrophic hormone (ACTH) Calcitonin (hct) Tumour markers Alpha-fetoprotein (AFP) Carcinoembryonic antigen (CEA) Chorionic gonadotrophin (hcg) Maternal serum screening Down s syndrome 1 st & 2 nd trimester (T) Neural tube defects (NTD) Alpha-fetoprotein (AFP) 2 nd T Down s; NTD Chorionic gonadotrophin (hcg) [intact / total] 2 nd T Down s Unconjugated oestriol (UE3) - 2 nd T Down s Inhibin A 2 nd T Down s Urine Pregnancy testing Urinary hcg (qualitative and quantitative) Assessment Manager: JR1 Page 2 of 5
Molecular Pathology Schemes: UK NEQAS Molecular Genetics Scheme DNA Core molecular diseases Achondroplasia BRCA1 and BRCA2 gene screen C9orf72 related Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis CADASIL Connexin 26 Cystic fibrosis Duchenne and Becker muscular dystrophies Fabrys disease Familial adenomatous polyposis Familial breast and ovarian Familial hypercholeresterolaemia Fragile X syndrome Friedreich ataxia Hereditary and motor sensory neuropathy and hereditary neuropathy with liability to pressure palsies Huntington disease Hypertrophic Cardiomyopathy Long QT syndrome Lynch syndrome / Hereditary non-polyposis colon Marfan syndrome Maternal cell contamination and sexing MUYTH-associated polyposis Medium chain acyl CoA dehydrogenase deficiency Microsatellite instability testing [see also Molecular Pathology] Assessment Manager: JR1 Page 3 of 5
Molecular Pathology Schemes (cont d) DNA (cont d) Core molecular diseases Mitochondrial diseases Molecular aneuploidy testing Multiple endocrine neoplasia types 2A & 2B Myotonic dystrophy Pathogenicity of sequence variants POLG mutation testing Prader-Willi and Angelman syndrome Rett syndrome Spinal bulbar muscular atrophy Spinal muscular atrophy Spinocerebellar ataxias Von Hippel-Lindau syndrome Dried blood spots Dried blood spot testing Cystic fibrosis (genotyping only) Medium chain acyl Co-A dehydrogenase deficiency (genotyping only) DNA and lymphocytes Pre-implantation genetic diagnosis Monogenic disorders Formalin fixed paraffin Molecular pathology embedded (FFPE) tumour Microsatellite instability testing section or DNA Molecular analysis in colorectal Molecular analysis in gastrointestinal stromal tumours Molecular analysis in lung Molecular analysis in melanoma Assessment Manager: JR1 Page 4 of 5
Molecular Pathology Schemes (cont d) Blood FFPE tissue DNA extraction schemes DNA extraction from blood samples DNA extraction from tissue samples END Assessment Manager: JR1 Page 5 of 5