NL
ACTN4 - nephrotic syndrome with focal segmental glomerular sclerosis
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrotic syndrome
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:
604638
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CD2AP - focal segmental glomerulosclerosis type 3
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrotic syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- 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:
604241
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
INF2 - focal segmental glomerulosclerosis type 5
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrotic syndrome
This product is also part of the following panels:
- WES Mendelian inherited disorders (99.9% *)
- WES neuropathies¹ (99.9% *)
- WES renal disorders (99.9% *)
* % 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
Exon 8 is technically impossible to analyze.
OMIM:
610982
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
LAMB2 - congenital nephrotic syndrome (Pierson syndrome)
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrotic syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (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:
150325
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MYO1E - focal segmental glomerulosclerosis type 6
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrotic syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- 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:
601479
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NPHS1 - congenital nephrotic syndrome of the Finnish type
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrotic syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- 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:
602716
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NPHS2 - steroid-resistant nephrotic syndrome
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrotic syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- 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:
604766
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PAX2 - focal segmental glomurulosclerosis type 7
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrotic syndrome
This product is also part of the following panels:
- WES Mendelian inherited disorders (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:
22967
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PLCE1 - nephrotic syndrome type 3
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrotic syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (99.8% *)
- WES metabolic disorders (99.8% *)
- WES renal disorders (99.8% *)
* % 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:
608414
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PTPRO - nephrotic syndrome type 6
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrotic syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (99.1% *)
- WES renal disorders (99.1% *)
* % 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:
600579
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TRPC6 - focal segmental glomerulosclerosis type 2
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrotic syndrome
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:
603652
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
WT1 - nephrotic syndrome with diffuse mesangial sclerosis
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrotic syndrome
This product is also part of the following panels:
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
- WES hereditary cancer (100.0% *)
- 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:
256370
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
