Genetics Outsourcing of Next Generation Sequencing

Description

The Northeast and Yorkshire Genomics Laboratory Hub (NEY GLH) is a partnership between Newcastle Teaching Hospitals, Leeds Teaching Hospitals and Sheffield Children’s Hospital Trusts, providing genomic diagnostic services across the region. The combined services offer a range of both core and specialist diagnostic services. The GLH is looking to procure rare disease genomic testing in line with the national test directory to support key service delivery NHS England » National genomic test directory.<br/><br/>To analyse and report Single Nucleotide Variant and Copy Number Variant data for all required genes on relevant NHS PanelAPP at a minimum of 30x coverage for >95% of regions targeted. <br/><br/>Panels required: <br/>MSK R101 Ehlers Danlos syndrome with a likely monogenic cause<br/><br/>MSK R102 Osteogenesis imperfecta<br/><br/>Resp R188 Pulmonary Arterial Hypertension<br/><br/>Resp R189 Respiratory ciliopathies including non-CF bronchiectasis<br/><br/>Resp R421 Pulmonary Fibrosis Familial Lot 1: The Northeast and Yorkshire Genomics Laboratory Hub (NEY GLH) is a partnership between Newcastle Teaching Hospitals, Leeds Teaching Hospitals and Sheffield Children’s Hospital Trusts, providing genomic diagnostic services across the region. The combined services offer a range of both core and specialist diagnostic services. The GLH is looking to procure rare disease genomic testing in line with the national test directory to support key service delivery NHS England » National genomic test directory.<br/><br/>To analyse and report Single Nucleotide Variant and Copy Number Variant data for all required genes on relevant NHS PanelAPP at a minimum of 30x coverage for >95% of regions targeted. <br/><br/>Panels required: <br/>MSK R101 Ehlers Danlos syndrome with a likely monogenic cause<br/><br/>MSK R102 Osteogenesis imperfecta<br/><br/>Resp R188 Pulmonary Arterial Hypertension<br/><br/>Resp R189 Respiratory ciliopathies including non-CF bronchiectasis<br/><br/>Resp R421 Pulmonary Fibrosis Familial