Atypical Hemolytic Uremic Syndrome (aHUS)

panel atypical HUS (CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, THBD, DGKE, CFP, C2))

This test is available for the following conditions:

• Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
• Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)

Turnaround time
8 weeks

Method

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

Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA

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C3 - atypical hemolytic uremic syndrome (aHUS)

This test is available for the following conditions:

• Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
• Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES hemostatic/thrombotic disorders (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES primary immunodeficiencies (100.0% *)
• WES renal disorders (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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

Method

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

OMIM: 120700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CFB - atypical hemolytic uremic syndrome (aHUS)

This test is available for the following conditions:

• Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
• Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)

This product is also part of the following panels:

• WES hemostatic/thrombotic disorders (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES primary immunodeficiencies (100.0% *)
• WES renal disorders (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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

Method

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

OMIM: 138470
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CFH - atypical hemolytic uremic syndrome (aHUS)

This test is available for the following conditions:

• Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
• Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)

This product is often ordered in combination with:

• CFH operon - atypical hemolytic uremic syndrome (aHUS) (MLPA)

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES hemostatic/thrombotic disorders (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES primary immunodeficiencies (100.0% *)
• WES renal disorders (100.0% *)
• WES vision disorders (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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

Method

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

OMIM: 134370
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CFHR1 - atypical hemolytic uremic syndrome (aHUS)

This test is available for the following conditions:

• Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
• Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)

This product is also part of the following panels:

• WES Mendelian inherited disorders (97.7% *)
• WES renal disorders (97.7% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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

Method

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

OMIM: 134371
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CFHR2 - atypical hemolytic uremic syndrome (aHUS)

This test is available for the following conditions:

• Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
• Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)

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

Method

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

OMIM: 600889
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CFHR3 - atypical hemolytic uremic syndrome (aHUS)

This test is available for the following conditions:

• Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
• Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)

This product is also part of the following panels:

• WES Mendelian inherited disorders (99.4% *)
• WES renal disorders (99.4% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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

Method

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

OMIM: 605336
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CFHR4 - atypical hemolytic uremic syndrome (aHUS)

This test is available for the following conditions:

• Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
• Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)

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

Method

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

OMIM: 605337
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CFHR5 - atypical hemolytic uremic syndrome (aHUS)

This test is available for the following conditions:

• Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
• Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)

This product is also part of the following panels:

• WES Mendelian inherited disorders (100.0% *)
• WES renal disorders (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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

Method

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

OMIM: 608593
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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DGKE - atypical hemolytic uremic syndrome (aHUS)

This test is available for the following conditions:

• Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
• Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES hemostatic/thrombotic disorders (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES metabolic disorders (100.0% *)
• WES renal disorders (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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

Method

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

OMIM: 601440
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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THBD - atypical hemolytic uremic syndrome (aHUS)

This test is available for the following conditions:

• Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
• Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)

This product is also part of the following panels:

• WES hemostatic/thrombotic disorders (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES primary immunodeficiencies (100.0% *)
• WES renal disorders (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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

Method

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

OMIM: 188040
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CFH operon - atypical hemolytic uremic syndrome (aHUS) (MLPA)

This test is available for the following conditions:

• Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
• Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)

This product is often ordered in combination with:

• CFH - atypical hemolytic uremic syndrome (aHUS)

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

Method

• Deletion/duplication analysis (MLPA)

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

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