Gene

MC2R - glucocorticoid deficiency type 1 (ACTH unresponsiveness)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 328

MC2R - glucocorticoid deficiency type 1 (ACTH unresponsiveness)



€ 328

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




€ 328