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VIPAS39 - arthrogryposis, renal dysfunction, and cholestasis type 2
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Arthrogryposis renal dysfuntion and cholestasis
- Conditions > Skin > Arthrogryposis renal dysfuntion and cholestasis
- Conditions > Gastric-Intestinal-Liver > Arthrogryposis renal dysfuntion and cholestasis
- Conditions > Hematological, hereditary > Arthrogryposis renal dysfuntion and cholestasis
- Conditions > Immunological, hereditary > Arthrogryposis renal dysfuntion and cholestasis
- Conditions > Renal / Nephrological > Arthrogryposis renal dysfuntion and cholestasis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (100.0% *)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES liver disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES muscle 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:
613401
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
VPS33B - arthrogryposis, renal dysfunction, and cholestasis type 1
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Arthrogryposis renal dysfuntion and cholestasis
- Conditions > Skin > Arthrogryposis renal dysfuntion and cholestasis
- Conditions > Gastric-Intestinal-Liver > Arthrogryposis renal dysfuntion and cholestasis
- Conditions > Hematological, hereditary > Arthrogryposis renal dysfuntion and cholestasis
- Conditions > Immunological, hereditary > Arthrogryposis renal dysfuntion and cholestasis
- Conditions > Renal / Nephrological > Arthrogryposis renal dysfuntion and cholestasis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (100.0% *)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES liver disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES renal disorders (100.0% *)
- WES skin disorders¹ (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:
10828
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
