Branched chain amino acids – valine, leucine, isoleucine and alloisoleucine

Description
Tandem mass spectrometric analysis
Clinical details

For monitoring patients with known inherited metabolic disease, specifically maple syrup urine disease. This test is indicated in the routine monitoring of MSUD patients and also for close monitoring during periods of acute decompensation.

Related condition
Reference range

Please contact laboratory to discuss

Units

umol/L

Synonyms

BCAA, Valine, Leucine, Isoleucine, Alloisoleucine, Metabolic

Testing site
Synnovis : Reference Services : Blackfriars Hub
Laboratory
Inherited Metabolic Disease
Sample type and volume required

Bloodspot card. Two > 7 mm diameter spots

Call in advance

Discuss with laboratory to arrange urgent analysis

Special sample instructions

Please include clinical details with the request form for appropriate interpretation of the results

Storage and transport

Send via first class post

Turnaround time

Same day

Contacts

Inherited Metabolic Diseases Unit at Blackfriars Hub
Phone: 020 4591 0070
IMD Duty Biochemist: 07592 502653
Email: ClinicalScientistIMD@synnovis.co.uk
Reference Chemistry
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London
SE1 8NZ

Last updated:

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