Nephrolithiasis/osteoporosis, hypophosphatemic

SLC34A1 - nephrolithiasis / hypophosphatemic osteoporosis type 1

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Nephrolithiasis/osteoporosis, hypophosphatemic

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: 182309
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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SLC9A3R1 - nephrolithiasis / hypophosphatemic osteoporosis type 2

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Nephrolithiasis/osteoporosis, hypophosphatemic

This product is also part of the following panels:

• Hearing impairment panel (including GJB2)
• Mendelian inherited disorders panel
• Neuropathies panel¹
• 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: 604990
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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