Routine Sample Referral to Other Laboratories

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.

Bristol Genetics Laboratory
Pathology Sciences
Southmead Hospital
Bristol
BS10 5NB
CF and MCADD mutation analysis

Haematology
Blood Sciences Department
Pathology Sciences
Southmead Hospital
Bristol
BS10 5NB
Confirmation of sickle and haemoglobinopathy results by iso-electric focussing.

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.

Haematology CSR
The Red Cell Centre
Kings College Hospital
Denmark Hill
Bessemer Road
London
SE5 9RS
Sickle cell disease testing by DNA, for babies that have had a blood transfusion before the blood spot sample was collected.

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.

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
Medical Biochemistry & Immunology
Heath Park
Cardiff
CF14 4XW
Bloodspot homocysteine analysis as part of the second-tier testing for Homocystinuria screening.

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).

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.

 

Updated 23/04/2020