Genetics Outsourcing of Next Generation Sequencing
Contract Value:
GBP 480K -
Notice Type:
Contract Notice
Published Date:
19 June 2024
Closing Date:
19 July 2024
Location(s):
UKC22 Tyneside (UK UNITED KINGDOM)
Description:
Partnership NEY GLH seeks rare disease genomic testing services for specific genetic panels to support NHS service delivery.
Genetics Outsourcing of Next Generation Sequencing. 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.
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.
Panels required: MSK R101 Ehlers Danlos syndrome with a likely monogenic cause
MSK R102 Osteogenesis imperfecta
Resp R188 Pulmonary Arterial Hypertension
Resp R189 Respiratory ciliopathies including non-CF bronchiectasis
Resp R421 Pulmonary Fibrosis Familial
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.
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.
Panels required: MSK R101 Ehlers Danlos syndrome with a likely monogenic cause
MSK R102 Osteogenesis imperfecta
Resp R188 Pulmonary Arterial Hypertension
Resp R189 Respiratory ciliopathies including non-CF bronchiectasis