NL
CYP11A1 - congenital adrenal insufficiency
This test is available for the following conditions:
- Conditions > Disorders in sex development > Adrenogenital syndrome (AGS)
- Conditions > Endocrine > Adrenogenital syndrome (AGS)
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
- Metabolic disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
118485
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CYP17A1 - congenital adrenal hyperplasia, 17-alpha-hydroxylase/17,20-lyase deficiency
This test is available for the following conditions:
- Conditions > Disorders in sex development > Adrenogenital syndrome (AGS)
- Conditions > Endocrine > Adrenogenital syndrome (AGS)
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
- Metabolic disorders panel
- 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
- Deletion/duplication analysis (MLPA)
MLPA analysis only upon request or if only one variant has been found in an autosomal recessive disease.
OMIM:
609300
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CYP21A2 - congenital adrenal hyperplasia (21-hydroxylase deficiency)
This test is available for the following conditions:
- Conditions > Disorders in sex development > Adrenogenital syndrome (AGS)
- Conditions > Endocrine > Adrenogenital syndrome (AGS)
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:
613815
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
HSD3B2 - congenital adrenal hyperplasia, 3-beta hydroxysteroid dehydrogenase deficiency
This test is available for the following conditions:
- Conditions > Disorders in sex development > Adrenogenital syndrome (AGS)
- Conditions > Endocrine > Adrenogenital syndrome (AGS)
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
- Metabolic disorders panel
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)
MLPA analysis only upon request.
OMIM:
613890
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
