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Apolipoprotein E isoform analysis
Using targeted proteomics we can perform human Apolipoprotein E genotyping analysis on a variety of tissues such as bloodspots, plasma, serum, and CSF. Please see our JOVE article for further information.
Please contact Dr Wendy Heywood for availability & pricing if you would like us to perform this analysis.
Diagnostic Services
The BMSC accepts samples for specialised analytical clinical analyses on a research basis only. Please note these analyses are not performed in an UKAS accredited laboratory.
If you have a large number of samples for analyses please contact either Professor Philippa Mills or Professor Peter Clayton to confirm the laboratory can accept them.
All samples need to be accompanied with a valid Purchase Order otherwise we are unable to accept them for analysis. Please contact Dr Youssef Khalil for further information.
Urine bile acids by ESI-MS/MS
For a urine bile acid analysis we require > 2 ml of a random urine which can be posted to our lab without special precautions if it will arrive within 24 hours of dispatch. However, if the transfer will take longer than 24 hours, all samples should be sent on dry-ice and should not be scheduled to arrive at ICH at the weekend.
Possible cases of inborn errors of bile acid synthesis can be discussed with Professor Peter Clayton (tel: 020 7905 2628)
For information regarding sample costs, receiving, turnaround time and results reporting please contact Dr Youssef Khalil
Blood spot bile acids by ESI-MS/MS
By arrangement with Prof Peter Clayton. Clinical details are important for optimal interpretation but only send information with patient identifiers to peter.clayton2@nhs.net
While analysis of a urine bile acid spectrum has proved a reliable method of detection of inborn errors of bile acid synthesis (IEBAS) in patients below the age of 18 months presenting with liver disease, it is not sensitive enough to pick up some IEBAS presenting in older children or adults with a neurological disorder. Quantitative analysis of bile acids in a dried blood spot or plasma can detect the abnormal bile acids in these individuals.
Spot blood on a standard newborn screening card (Whatman 903 filter paper), making sure to fill the circles with a single drop, allow to dry overnight and place in a well-sealed plastic bag with desiccant. Send within a week. Alternatively send plasma if this is what has been stored.
Plasma sterol analysis by GC-MS:
For inborn errors of cholesterol synthesis or phytosterolaemia (whether due to the inborn error or parenteral nutrition) and the measurement of cholestanol (included) is useful for the diagnosis and management of cerebrotendinous xanthomatosis.
We require > 200 µl of lithium heparin plasma which can be posted to our lab without special precautions if it will arrive within 24 hours of dispatch (orange top and separated from the red cells). However, if the transfer will take longer than 24 hours, all samples should be sent on dry-ice and should not be scheduled to arrive at ICH at the weekend. Possible cases of inborn errors of cholesterol synthesis can be discussed with Professor Peter Clayton (tel: 020 7905 2628)
For information regarding costs, sample receiving, turnaround time and results reporting please contact Dr Youssef Khalil
Alpha Amino Adipic Semialdehyde (AASA) by ESI-MS/MS
We require > 1 ml of a random urine which can be posted to our lab without special precautions if it will arrive within 16 hours of dispatch. However, AASA is particularly susceptible to breakdown when unfrozen, if the transfer will take longer than 16 hours, all samples should be sent on dry-ice and should not be scheduled to arrive at ICH at the weekend. Please make sure the sample is not too dilute as it makes quantitation difficult and analysis may need repeating.
Analysis of AASA as a diagnosis of Pyridoxine dependent epilepsy can be discussed with Professor Philippa Mills
For information regarding costs, sample receiving, turnaround time and results reporting please contact Dr Youssef Khalil
Blood spot pyridox(am)ine phosphate oxidase (PNPO) activity
For suspected PNPO deficiency: pyridoxal phosphate dependent epilepsy of pyridoxine-responsive epilepsy with normal urine AASA
By arrangement with Prof Philippa Mills. Clinical details are important for optimal interpretation but only send information with patient identifiers to philippa.mills@nhs.net.
Spot blood on a standard newborn screening card (Whatman 903 filter paper), making sure to fill the circles with a single drop, allow to dry overnight and store (prior to sending) in a well-sealed plastic bag with desiccant at -20oC. Sample can be sent by courier or by post; the enzyme is stable at room temperature for up to 4 days.
Postal address for metabolomics samples:
- FAO: Dr Youssef Khalil / Rohit Hirachan / Prof Philippa Mills / Prof Peter Clayton Laboratory
- Genetics and Genomic Medicine
- 3rd Floor Philip Ullman Wing
- UCL Great Ormond Street Institute of Child Health
- 30 Guilford Street
- London WC1N 1EH
Please also send an email, saying when the sample will arrive to y.khalil@ucl.ac.uk and r.hirachan@ucl.ac.uk - Results are reported to an nhs.net email address so please ensure that a working email address accompanies the sample – preferably a nhs.net address, but failing this another secure email address.
Urine and plasma globotriaosylceramide (Gb3) also known as ceramide trihexoside (CTH) and globotriaosylsphingosine (lyso-Gb3) in urine and plasma
We are one of the main centres for the analysis of cerebrotrixdase/Gb3/GL3 and lyso-CTH/Gb3/in urine and plasma. These are the accumulative compounds that are the hallmark of Fabry disease. Gb3 and lyso-Gb3 are often monitored in Fabry disease and we routinely analyse samples for clinical trials for industrial partners.
If you wish to send samples for analysis please send this through the Great Ormond Street Hospital chemical pathology hospital service. if you wish to enquire about measuring Gb3 and lyso-Gb3 regarding a potential clinical trial please contact Prof. Kevin Mills.
Please see our poster on
Plasma Glucosylsphingosine (Lyso-Gb1)
We now offer plasma lyso-Gb1 analysis as a clinical service. Lyso-Gb1 is a biomarker for Gaucher disease and is considered a better alternative to chitotriosidase which is only expressed in xx of the population.
Please see our service launch poster presented at the WORLD symposium 2020.
Coming soon- Lyso-Gb3 and Lyso-Gb1 dried bloodspot analysis service
please see our poster on
method presented at WORLD 2020 OrlandoUrinary Keratan Sulphate analysis (uKS)
Keratan Sulphate is a glycosaminoglycan that accumulates in MPS IV Morquio disease. Urinary KS is monitored as a biomarker for treatment response in patients.
If you wish to send samples for analysis please send this through the Great Ormond Street Hospital chemical pathology hospital service. If you wish to enquire about measuring uKS regarding a potential clinical trial please contact Dr Wendy Heywood.
To discuss results of tests which require the use of patient identifiers send an email from an nhs.net account to peter.clayton2@nhs.net or philippa.mills@nhs.net
