Cysteinuria/Cystinuria

SLC3A1 - cystinuria type A

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Cysteinuria/Cystinuria

This product is often ordered in combination with:

• SLC3A1 - cystinuria type A (MLPA)

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic 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
• Deletion/duplication analysis (MLPA)

OMIM: 104614
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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SLC3A1 - cystinuria type A (MLPA)

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Cysteinuria/Cystinuria

This product is often ordered in combination with:

• SLC3A1 - cystinuria type A

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Renal disorders panel

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

Method

• Deletion/duplication analysis (MLPA)

OMIM: 104614
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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SLC7A9 - cystinuria type B (MLPA)

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Cysteinuria/Cystinuria

This product is often ordered in combination with:

• SLC7A9 - cystinuria type B

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Renal disorders panel

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

Method

• Deletion/duplication analysis (MLPA)

OMIM: 604144
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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