Updated on 23/12/21
NBT Biochemical Genetics Unit
Clinical Biochemistry
Pathology Sciences Laboratory
Southmead Hospital
Westbury-on-Trym
Bristol
BS10 5NB
Urine organic acids, blood spot acylcarnitine profiles, blood spot galactosaemia screens and plasma amino acid analysis for follow-up of positive IMD screening results.
NBT Bristol Genetics Laboratory
https://www.nbt.nhs.uk/severn-pathology/pathology-services/bristol-genetics-laboratory-bgl
Bristol Genetics Laboratory
Pathology Sciences
Southmead Hospital
Bristol
BS10 5NB
CF and MCADD mutation analysis
NBT Haematology
https://www.nbt.nhs.uk/severn-pathology/pathology-services/haematology
Haematology Department
Pathology Sciences
Southmead Hospital
Bristol
BS10 5NB
Confirmation of sickle and haemoglobinopathy results by iso-electric focussing.
Birmingham Children’s Hospital
Department of Clinical Chemistry
The Birmingham Children's Hospital NHS Trust
Steelhouse Lane
Birmingham
B4 6NH
Biopterin analysis as part of the differential diagnoses associated with elevated phenylalanine levels.
Red Cell Centre – Kings College Hospital
Molecular Pathology
c/o Central Specimen Reception
Blood Sciences Laboratory
Ground Floor Bessemer Wing
Kings College Hospital
Denmark Hill
London
SE5 9RS
Sickle cell disease testing by DNA, for babies that have had a blood transfusion before the blood spot sample was collected.
Virology – Royal Free Hospital
RRL – Specimen Reception (VIROLOGY Section)
1st Floor HSL Laboratories
Royal Free Hospital
Pond Street, Hampstead
London
NW3 2QG
CMV virology: See https://www.nbt.nhs.uk/severn-pathology/pathology-services/clinical-biochemistry/newborn-screening/blood-spot-retrieval for further information and downloadable consent form.
Sheffield Children’s Hospital
Department of Clinical Chemistry and Newborn Screening
Sheffield Children's NHS Trust
Western Bank
Sheffield
S10 2TH
Quantitative hexanoylglycine analysis in urine as part of the confirmatory testing for MCADD.
Newborn Screening Laboratory – Cardiff
Medical Biochemistry & Immunology
Heath Park
Cardiff
CF14 4XW
Bloodspot homocysteine analysis as part of the second-tier testing for Homocystinuria.
Sheffield Diagnostic Genetics Service
Sheffield Children’s NHS Foundation Trust
Western Bank
Sheffield
S10 2TH
DNA analysis for 932C>T benign mutation as part of the confirmatory testing for IVA.
DNA full genome sequencing as part of the confirmatory testing for GA1 (if biochemistry normal or equivocal).
Viapath - Molecular Genetics Laboratory
Genetics Department
Viapath at Guy’s Hospital
Floor 5 Tower Wing
London
SE1 9RT
Extended mutation analysis as part of the confirmatory testing for MCADD if required.
Viapath - Inherited Metabolic Diseases Unit
St Thomas’ Hospital
North Wing – 4th Floor
London
SE1 7EH
C5 isobar analysis as part of the confirmatory testing for IVA if required.
Contact Newborn Screening
Newborn Screening
Clinical Biochemistry
Pathology Sciences Laboratory
Southmead Hospital
Westbury-on-Trym
Bristol
BS10 5NB
Email: nbn-tr.newbornscreening@nhs.net
Telephone: 0117 414 8412
Fax: 0117 414 8413
Opening times: 9am - 5pm Monday - Friday excluding bank holidays.
Clinical advice & interpretation is available during working hours.
Access the NHS Blood Spot Screening Programme Centre