Familial Mediterrean Fever (sequence of exons 2, 3, 5)

Metabolism

01.013

Familial Mediterrean Fever (sequence of exons 2, 3, 5)

FMF

Signs/symptoms:	Peritonitis
Complications:	Amyloidosis
Early diagnosis/treatment:	Yes

Autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis

Material required:
Blood tubes:	EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush:	No

Chromosomal localization:

16p13

OMIM number:

249100

Pyrin (sequence of exons 2, 3, 5)

MEFV

Gene regions tested:
Gene regions:	exons 2, 3, 5
Amino acid positions:
Nucleotide positions:
Test methods:	Sequencing

Prices:

Switzerland:

8820.00

8811.01

8819.01

8810.21

	TP REVAL:	1200	TP Value:	0.9	CHF	1080.00
Other europe:	EUR					800.00
Other regions:	USD					call

References:

Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am. J. Hum. Genet. 64:949-962,1999.

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Familial Mediterrean Fever (sequence of exons 2, 3, 5)