Mevalonic acid - urine Referred Test

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Eurofins Biomnis code

MEVAL

Specialty

Analytical Chemistry

Clinical significance

Its presence in urine or mevalonic aciduria is an autosomal recessive transmission disease. It is associated with peroxysomal mevalonate kinase deficiency. The gene involved has been sequenced and several mutations have been described. Disease characterised by severe recurrent anaemia in the first year of life, with hepatomegaly, retarded growth, arthralgia and profile possibly indicating Mediterranean fever. Forms of later onset also exist, with psychomotor retardation.

Preanalytics
  • A tube specifically for this analysis : No
Further information

Enclose the specific clinical information form (R26-INTGB : Metabolic Biochemistry)
Sample to be frozen within 1 hour. Home sampling is not advisable.
Sample during attack.

Specific equipment available
  • Rhesus genotyping requisitions (leaflets)
Documents to download
Methodology

Gas Phase Chromatography / Mass Spectrometry (GC-MS)

Turnaround time

4 weeks

Testing Laboratory

Refered Test

Contact(s)
Customer Care
Caption

Referred TestThe pre-analytical conditions and prices are defined on the basis of the requirements of the performing laboratory.