Routine Sample Referral to Other Laboratories

Updated on 23/12/21

NBT Biochemical Genetics Unit

https://www.nbt.nhs.uk/severn-pathology/pathology-services/clinical-biochemistry/biochemical-genetics

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.