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:

  • 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: 610613
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 378

Gene

CYP11A1 - congenital adrenal insufficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 386

CYP11A1 - congenital adrenal insufficiency



€ 386

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




€ 386
Gene

CYP11B1 - congenital adrenal hyperplasia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 378

CYP11B1 - congenital adrenal hyperplasia



€ 378
Gene

CYP17A1 - congenital adrenal hyperplasia, 17-alpha-hydroxylase/17,20-lyase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 378

CYP17A1 - congenital adrenal hyperplasia, 17-alpha-hydroxylase/17,20-lyase deficiency



€ 378

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)
Remarks
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




€ 378
Gene

CYP21A2 - congenital adrenal hyperplasia (21-hydroxylase deficiency)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 674

CYP21A2 - congenital adrenal hyperplasia (21-hydroxylase deficiency)



€ 674

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




€ 674
Gene

HSD3B2 - congenital adrenal hyperplasia, 3-beta hydroxysteroid dehydrogenase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 345

HSD3B2 - congenital adrenal hyperplasia, 3-beta hydroxysteroid dehydrogenase deficiency



€ 345

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)
Remarks
MLPA analysis only upon request.

OMIM: 613890
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 345