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NR3C1 - glucocorticoid receptor deficiency

This test is available for the following conditions:

Conditions > Endocrine > Glucocorticoid receptor deficiency
Conditions > Hematological, hereditary > Glucocorticoid receptor deficiency
Conditions > Renal / Nephrological > Glucocorticoid receptor deficiency

This product is also part of the following panels:

Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
Mendelian inherited disorders panel

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

Method

Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 138040
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 328

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- Radboudumc & MaasrichtUMC+

Glucocorticoid receptor deficiency

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Gene

NR3C1 - glucocorticoid receptor deficiency

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

Performing laboratory
Radboudumc

€ 328

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NR3C1 - glucocorticoid receptor deficiency

GEN

complete analysis

targeted analysis of a familial mutation

€ 328

Add Update Remove

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