NL
KISS1R - central precocious puberty type 1
This test is available for the following conditions:
- Conditions > Endocrine > Central precocious puberty (pubertas praecox)
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Hypogonadotropic hypogonadism (Kallmann) 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
- Deletion/duplication analysis (MLPA)
OMIM:
604161
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MKRN3 - central precocious puberty type 2
This test is available for the following conditions:
- Conditions > Endocrine > Central precocious puberty (pubertas praecox)
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:
603856
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
