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Table 2 Number of participating EPNET centres and associate members having performed diagnostic laboratory analyses during 2006 through 2009

From: Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services

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

  1. a Minimum laboratory analyses required for being classified as an EPNET specialist porphyria centre.
  2. b Considered necessary for the diagnosis and discrimination of the three most common acute porphyrias (acute intermittent porphyria, hereditary coproporphyria and variegate porphyria).
  3. c Considered necessary for the diagnosis and discrimination of cutaneous porphyrias with active skin lesions (not including EPP).
  4. d Two out of three (total, free and/or zink-chelated protoporphyrin) considered necessary for the diagnosis of EPP.
  5. e Other enzymes comprise ALA dehydratase, ALA synthase, uroporphyrinogen III synthase, coproporphyrinogen oxidase, protoporphyrinogen oxidase and ferrochelatase.