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:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (99.2% **)
  • WES primary immunodeficiencies (99.2% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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