Familial Mediterrean Fever (main mutations)

Metabolism

01.012

Familial Mediterrean Fever (main mutations)

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:	Yes

Chromosomal localization:

16p13

OMIM number:

249100

Pyrin (main mutations)

MEFV

Gene regions tested:
Gene regions:
Amino acid positions:	M680I, M694V, M694I, V726A, E148Q
Nucleotide positions:
Test methods:	Sequencing

Prices:

Switzerland:

8820.00

8811.01

8819.01

	TP REVAL:	450	TP Value:	0.9	CHF	405.00
Other europe:	EUR					270.00
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 (main mutations)