Glucocorticoid receptor deficiency

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 with genome wide CNV analysis

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

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