Glucocorticoid deficiecy

MC2R - glucocorticoid deficiency type 1 (ACTH unresponsiveness)

This test is available for the following conditions:

• Conditions > Skin > Glucocorticoid deficiecy
• Conditions > Endocrine > Glucocorticoid deficiecy
• Conditions > Immunological, hereditary > Glucocorticoid deficiecy

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Primary immunodeficiencies panel

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

Method

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

OMIM: 607397
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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