Diabetes insipidus

AQP2 - autosomal dominant nephrogenic diabetes insipidus

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Diabetes insipidus

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 107777
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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AVP - central diabetes insipidus

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Diabetes insipidus

This product is also part of the following panels:

• Mendelian inherited disorders panel with genome wide CNV analysis
• Renal 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: 192340
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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AVPR2 - X-linked nephrogenic diabetes insipidus

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Diabetes insipidus

This product is also part of the following panels:

• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Renal 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)

OMIM: 300538
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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