Routine Sample Referral to Other Laboratories
Biochemical Genetics Unit
Pathology Sciences Laboratory
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
CF and MCADD mutation analysis
Blood Sciences Department
Confirmation of sickle and haemoglobinopathy results by iso-electric focussing.
Department of Clinical Chemistry
The Birmingham Children's Hospital NHS Trust
Biopterin analysis as part of the differential diagnoses associated with elevated phenylalanine levels.
The Red Cell Centre
Kings College Hospital
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
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
Quantitative hexanoylglycine analysis in urine as part of the confirmatory testing for MCADD.
Newborn Screening Laboratory
Medical Biochemistry & Immunology
Bloodspot homocysteine analysis as part of the second-tier testing for Homocystinuria screening.
Sheffield Diagnostic Genetics Service
Sheffield Children’s NHS Foundation Trust
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
Viapath at Guy’s Hospital
Floor 5 Tower Wing
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
C5 isobar analysis as part of the confirmatory testing for IVA if required.