Familial Hypocalciuric Hypercalcemia

AP2S1 - familial hypocalciuric hypercalcemia type 3

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Familial Hypocalciuric Hypercalcemia

This product is also part of the following panels:

• Intellectual disability panel
• Mendelian inherited disorders panel
• 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: 602242
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CYP24A1 - infantile hypercalcemia

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Familial Hypocalciuric Hypercalcemia

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel
• 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: 126065
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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GNA11 - familial hypocalciuric hypercalcemia type 2

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Familial Hypocalciuric Hypercalcemia

This product is also part of the following panels:

• Mendelian inherited disorders panel
• Renal disorders panel
• Skin disorders panel¹

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

Method

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

OMIM: 139313
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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