Alström Disease (sequence of entire gene)

Diabetology

03.001

Alström Disease (sequence of entire gene)

ALMS

Signs/symptoms:	Early-onset cardiomyopathy, heart insufficiency
Complications:
Early diagnosis/treatment:	Yes

Rare genetic autosomal recessive disease, characterized by early-onset impaired glucose tolerance or type 2 diabetes with insulin resistance, acanthosis nigricans, hyperlipidemia, childhood progressive retinal degeneration or retinitis pigmentosa and neurosensory hearing loss or deafness, cardiomyopathy, and other endocrine disorders.

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

Chromosomal localization:

2p12-13

OMIM number:

203800

Alström protein 1, ALMS1 (sequence of entire gene)

ALMS

Gene regions tested:
Gene regions:	entire gene
Amino acid positions:
Nucleotide positions:
Test methods:	Sequencing

Prices:

Switzerland:

8820.00

8811.01

8819.01

	TP REVAL:	3400	TP Value:	0.9	CHF	3060.00
Other europe:	EUR					2100.00
Other regions:	USD					call

References:

Zumsteg U, Muller PY, Miserez AR. Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs. J Med Genet. 2000;37:E8.

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Alström Disease (sequence of entire gene)