Glucocorticoid Remediabel Aldosteronism

CYP11B1-CYP11B2 - glucocorticoid-remediable aldosteronism (GRA)

This test is available for the following conditions:

• Conditions > Endocrine > Glucocorticoid Remediabel Aldosteronism
• Conditions > Renal / Nephrological > Glucocorticoid Remediabel Aldosteronism

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• PCR followed by fragment (length) analysis

Remarks
Glucocorticoid-remediable aldosteronism is caused by a fusion of the CYP11B1 and CYP11B2 genes. This is the only described mutation in glucocorticoid-remediable aldosteronism (Lifton et al, 1992, Nature, 355: 262).

OMIM: 124080
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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