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. 2012 Dec 10;7:93. doi: 10.1186/1750-1172-7-93

Table 2.

Number of participating EPNET centres and associate members having performed diagnostic laboratory analyses during 2006 through 2009

Material Analyte 2006
 2007
 2008
 2009
(30 centres) (32 centres) (32 centres) (33 centres)
Urine
 ALAa
 30
 32
 32
 33
 
 PBGa,b
 30
 32
 32
 33
 
 Total porphyrinsa
 25
 27
 28
 29
 
 Fractionation of porphyrinsa,c
 30
 30
 31
 31
Faeces
 Total porphyrinsa
 22
 21
 23
 26
 
 Fractionation of porphyrins with separation of copro I/IIIa,b,c
 23
 25
 28
 28
 
 Fractionation of porphyrins without separation of copro I/III
 9
 5
 5
 5
Plasma
 Plasma fluorescence scanninga,b,c
 25
 29
 29
 29
 
 Total porphyrins
 11
 13
 15
 16
 
 Fractionation of porphyrins
 16
 9
 11
 11
 
 ALA
 not asked
 not asked
 not asked
 3
 
 PBG
 not asked
 not asked
 not asked
 3
Whole blood
 Erythrocyte total protoporphyrina,d
 23
 27
 28
 30
 
 Erythrocyte free and zinc-chelated protoporphyrin a,d
 20
 24
 23
 26
 
 Porphobilinogen deaminase activity
 20
 22
 22
 23
 
 Uroporphyrinogen decarboxylase activity
 12
 9
 7
 10
 
 Other enzyme analysese
 12
 12
 8
 10
DNA analyses
 Hydroxymethylbilane synthase gene
 19
 16
 18
 17
 
 Uroporphyrinogen III synthase gene
 8
 3
 1
 9
 
 Uroporphyrinogen III decarboxylase gene
 13
 10
 10
 12
 
 Coproporphyrinogen III oxidase gene
 11
 13
 13
 12
 
 Protoporphyrinogen oxidase gene
 19
 17
 18
 17
 
 Ferrochelatase gene
 16
 13
 14
 15
 
 ALA synthase 1 gene
 not asked
 not asked
 0
 1
  ALA synthase 2 gene not asked not asked 4 7

a Minimum laboratory analyses required for being classified as an EPNET specialist porphyria centre.

b Considered necessary for the diagnosis and discrimination of the three most common acute porphyrias (acute intermittent porphyria, hereditary coproporphyria and variegate porphyria).

c Considered necessary for the diagnosis and discrimination of cutaneous porphyrias with active skin lesions (not including EPP).

d Two out of three (total, free and/or zink-chelated protoporphyrin) considered necessary for the diagnosis of EPP.

e Other enzymes comprise ALA dehydratase, ALA synthase, uroporphyrinogen III synthase, coproporphyrinogen oxidase, protoporphyrinogen oxidase and ferrochelatase.