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
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