Familial Hypercholesterolaemia – a targeted Next Generation Sequencing panel and retrospective analysis of patients with no previously identified pathogenic variant

• E. Willis,
• M. Wood,
• N. Hamling,
• L. Lazarou,
• S. Morgan,
• S. Corrin,
• R. Harris,
• I. McDowell,
• K. Haralambos,
• D. Datta

Affiliations

E. Willis

Department of Biochemistry, University Hospital of Wales, Cardiff, Wales

M. Wood

All Wales Medical Genetics Laboratory, University Hospital of Wales, Cardiff, Wales

N. Hamling

All Wales Medical Genetics Laboratory, University Hospital of Wales, Cardiff, Wales

L. Lazarou

All Wales Medical Genetics Laboratory, University Hospital of Wales, Cardiff, Wales

S. Morgan

All Wales Medical Genetics Laboratory, University Hospital of Wales, Cardiff, Wales

S. Corrin

All Wales Medical Genetics Laboratory, University Hospital of Wales, Cardiff, Wales

R. Harris

All Wales Medical Genetics Laboratory, University Hospital of Wales, Cardiff, Wales

I. McDowell

Department of Biochemistry, University Hospital of Wales, Cardiff, Wales

K. Haralambos

Familial Hypercholesterolaemia Service, University Hospital of Wales, Cardiff, Wales

D. Datta

Department of Biochemistry, University Hospital Llandough, Cardiff, Wales