Mevalonic acid - urine Refered Test
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MEVAL
Clinic 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.
Prenalytics
- 10 mL
- Early morning urine
- FROZEN
Further information
- Sample during attack.
- Sample to be frozen within 1 hour. Home sampling is not advisable.
- Enclose the specific clinical information form (R26-INTGB : Metabolic Biochemistry)
Specific equipment available
T9 : Urine flasks 70 ml
Documents to download
Methodology
Gas Phase Chromatography / Mass Spectrometry (GC-MS)
Turnaround time
4 weeks
Pathologist(s) in charge
Refered Test
Specialty
Analytical Chemistry
Contact(s)
Dr Gilles PANTEIX
E-mail(s)
Phone(s)
+334 72 80 10 41
Caption
Refered TestThe pre-analytical conditions and prices are defined on the basis of the requirements of the performing laboratory.
