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:
- WES comprehensive preconception carrier test ¹
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
* % 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:
118485
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CYP11B1 - congenital adrenal hyperplasia
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:
- WES comprehensive preconception carrier test ¹
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
* % 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:
610613
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:
- WES comprehensive preconception carrier test ¹
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES premature ovarian insufficiency (100.0% *)
* % 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
- 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:
- WES comprehensive preconception carrier test ¹
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (99.4% *)
- WES Mendelian inherited disorders (99.4% *)
- WES metabolic disorders (99.4% *)
* % 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
- Deletion/duplication analysis (MLPA)
MLPA analysis only upon request.
OMIM:
613890
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
