Buehlmann


genetic disorders

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AutoGenomics

The company's mission is to empower clinical laboratories with an automated multiplexing MDx solution to perform molecular testing that will significantly enhance work flow, cost efficiency and turn-around time resulting in enhanced patient care.

Cystic Fibrosis

test

The Cystic Fibrosis Transmembrane Regulator (CFTR) is a protein coded by the CF gene to regulate chloride channels within cells. Over 1300 variants have been identified, however most are extremely rare at less than 0.1%. Severity of CF disease varies widely with different genetic variants.
On the INFINITI® CFTR31 test 25 genetic mutations and 6 reflex tests (ACMG & ACOG CF-panel) are determined.
Other INFINITI® genetic disorder tests are FII, FV, MTHFR, FII-FV Panel, FII-FV-MTHFR Panel and the Ashkenazi Jewish Panel.

downloads

Factor II

[PDF 800KB]

Factor V

[PDF 800KB]

Factor II - Factor V

[PDF 800KB]

MTHFR (Methylenetetrahydrofolate Reductase)

[PDF 800KB]

Factor II - Factor V - MTHFR 

[PDF 800KB]

CFTR31 (Cystic Firbosis)

[PDF 800KB]

CFTR15 (Cystic Firbosis)

[PDF 800KB]

Ashkenazi Jewish Panel

[PDF 800KB]

Familial Mediterranean Fever (FMF)

[PDF 800KB]

Apo E

[PDF 800KB]

 

Contact

BÜHLMANN Laboratories AG
Baselstr. 55
CH-4124 Schönenbuch
Switzerland
Fon: +41 61 487 12 12
Fax: +41 61 487 12 34
info@buhlmannlabs.ch

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News

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