Addenbrooke's Hospital
Address
Biochemical Genetics Unit
Addenbrooke's Hospital
Box 247
Hills Road
Cambridge
CB2 0QQ
Website: https://www.cuh.nhs.uk/our-services/pathology/
Main Contact
Ms Sarah Hogg
Director Biochemical Genetics Unit
T: 01223 596172
E: Contact Ms Sarah Hogg
Other Contacts
Dr Laura Hewitt
Senior Clinical Scientist
T: 01223596173
E: Contact Dr Laura Hewitt
LABORATORY INFORMATION
Clinical Pathology Accreditation (CPA): Yes
ISO15189: Full
UKAS No.: 9814
UKAS Website: Visit UKAS website
There are currently 22 names in this directory
Acyl carnitines Dried bloodspot
Amino acids (quantitative) Plasma [ LithiumHeparin or EDTA ] or Urine (random plain) or CSF
Biotinidase Plasma [ LithiumHeparin ]
Chitotriosidase (Gaucher disease) Plasma [ LithiumHeparin ]
Creatine (creatine transporter deficiency) Plasma [ LithiumHeparin ] or Urine (frozen)
Cystine - urine (Cystinuria monitoring) 24hr collection (acid) or random
Galactose-1-phosphate uridyltransferase (Galactosaemia diagnosis) Dried Bloodspot
Glycosaminoglycans/mucopolysaccharides (MPS screen) Urine plain (Random)
Guanidinoacetate Plasma [ Lithium Heparin ] or Urine Plain (random)
Homocysteine -total (Homocystinuria; CBS deficiency) Plasma [ Lithium Heparin ]
Methylmalonate (Methylmalonic Acid)Urine (plain random)
N-Acetylaspartate (Canavan disease) Urine plain (random)
Organic acids (Qualitative) Urine plain (random)
Orotic acid, orotate Urine plain (random)
Phenylalanine/tyrosine (Phenylketonuria monitoring) Plasma [ Lithium Heparin ] or Dried Bloodspot
Phosphoethanolamine (hypophosphatasia) Urine plain (random)
Phytanate, phytanic acid (Peroxisomal disorders) Plasma [ EDTA ]
Porphobilinogen (Porphyria) Urine (Early morning urine during acute attack, protected from light and kept in plain container)
Pristanic acid, pristanate (peroxisomal disorders) Plasma [ EDTA ]
Succinylacetone (Tyrosinaemia Type 1) Urine plain (random)
Sulphocysteine (Sulphite oxidase deficiency; Molybdenum cofactor deficiency) Urine plain (random)
Very long chain fatty acids Plasma [ EDTA ]
