Bristol – Southmead

North Bristol NHS Trust

Address

Newborn Screening and Metabolic Biochemistry
Pathology Sciences Building
North Bristol NHS Trust
Southmead Hospital
Bristol
BS10 5NB

Website: https://www.nbt.nhs.uk/severn-pathology

Main Contact
Dr Helena Kemp
Consultant Medical Biochemist
T: 0117 4148425
F: 0117 4148413
E: Contact Dr Helena Kemp

Other Contacts

Ms Maryam Khan
Principal Clinical Scientist
T: 0117 4148418
F: 0117 4148413
E: Contact Ms Maryam Khan

Dr Emma Smith-Thomas
Senior Clinical Scientist
T: 0117 4148427
F: 0117 4148413
E: Contact Dr Emma Smith-Thomas

Main BMS Contact
Ms Bryony Wright
Senior Biomedical Scientist
T: 0117 4148346
E: Contact Ms Bryony Wright

LABORATORY INFORMATION

Galactosaemia Investigations

As of July 2022, we are in a position to offer a full range of assays for the investigations and monitoring of Galactosaemia within the Metabolic Biochemistry Department here at Southmead Hospital in Bristol. Please see the below letter summarising available investigations and the request form that should be sent with samples.

Galactosaemia investigations letter - July 2022 Download

Galactosaemia Request form - July 2022 Download

Clinical Pathology Accreditation (CPA): Full

ISO15189: Full

UKAS No.:

UKAS Website: Visit UKAS website

All | # A C F G M O P V

There are currently 19 names in this directory

3-Hydroxybutyrate

Plasma [ EDTA or FluorideOxalate ]

7-Dehydrocholesterol (Smith-Lemli-Opitz syndrome)

Plasma [ LithiumHeparin ] or Serum (protect sample from light)

Acyl carnitines

Plasma [ LithiumHeparin ] or Dried bloodspot

Amino acids (quantitative)

Plasma [ LithiumHeparin or EDTA ] or Urine (random plain) or CSF

Carnitine

Plasma [ LithiumHeparin ]

Cystine - urine (Cystinuria monitoring)

24hr collection (acid) or random

Free fatty acids

Plasma [ FluorideOxalate]

Galactitol (Galactosaemia / Galactokinase)

Urine plain (random)

Galactokinase (Galactokinase deficiency)

Whole blood [ Lithium Heparin ] (Shipped with ice pack/chilled)

Galactosaemia Screen

Whole Blood [ Lithium Heparin ] (send at ambient temperature <7 days from sampling)

Galactose-1-Phosphate (Galactosaemia monitoring)

Whole Blood [ Lithium-Heparin ] (shipped at ambient temperature, arrive <56 hours from sampling)

Galactose-1-phosphate uridyltransferase (Galactosaemia diagnosis by enzyme quantitation))

Whole blood [ Lithium Heparin ] (ship at ambient temperature <48 hours from sampling)

Methylmalonic acid (Cobalamin disorders)

Urine Plain (random)

Organic acids (Qualitative)

Urine plain (random)

Phenylalanine/tyrosine (Phenylketonuria monitoring)

Guthrie card [ Dried Bloodspot ]

Phosphoethanolamine (hypophosphatasia)

Urine plain (random) or Plasma [ Lithium Heparin ]

Phytanate, phytanic acid (Peroxisomal disorders)

Plasma [ Lithium Heparin ] or Serum

Pristanic acid, pristanate (peroxisomal disorders)

Plasma [ Lithium Heparin ] or Serum

Very long chain fatty acids

Plasma [ Lithium Heparin ] or Serum