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DHH - 46,XY sex reversal, complete or partial
This test is available for the following conditions:
- Conditions > Disorders in sex development > 46XY Sex reversal
- Conditions > Endocrine > 46XY Sex reversal
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
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
605423
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NR5A1 - 46,XY sex reversal, complete or partial
This test is available for the following conditions:
- Conditions > Disorders in sex development > 46XY Sex reversal
- Conditions > Endocrine > 46XY Sex reversal
This product is also part of the following panels:
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Male infertility panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Premature ovarian insufficiency panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
184757
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
