Inborn errors of bile acid synthesis (diagnosis and monitoring)

Pathology category

Biochemistry - referred tests

Test information

Quantitative analysis of bile acids in dried blood spots and urine

Code

None

Referral code

None

Request form

See attached for information required with request

Guidelines

New Instructions for IEBAS (003)

Pre-analytical

Please contact duty biochemist prior to requesting ([email protected] or 01905 760653/ex30651)

To be requested on ICE as miscellaneous biochemistry (MISB)

Reference range

See report

Tube type

Tube type info

Requires

• Liquid urine sample (minimum 0.3 ml) in plain container
• Urine spots – spot 20ul onto newborn screening card x 4, dry overnight at room temperature
• Dried blood spots – collected as for other blood spot tests for infants

Please ensure samples are sent to the lab Mon – Wed only so they can be sent to referral laboratory by Friday

Special requirements

To be sent to

Diagnostic tests (lab of Philippa Mills and Peter Clayton)
Inborn Errors of Metabolism
Genetics and Genomic Medicine
UCL Great Ormond Street Institute of Child Health
30 Guilford Street
London WC1N 1EN
(UK)

Samples should not arrive on a Friday

Minimum volume

Assay frequency

TAT Inpatient (urgent)

TAT Inpatient

4 weeks

TAT GP/Outpatient

4 weeks

Referral lab

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health