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:

  • Comprehensive preconception carrier test panel¹
  • Fetal akinesia panel
  • Hemostatic/thrombotic disorders panel
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Muscle 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: 613401
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 468

Gene

VIPAS39 - arthrogryposis, renal dysfunction, and cholestasis type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 468

VIPAS39 - arthrogryposis, renal dysfunction, and cholestasis type 2



€ 468
Gene

VPS33B - arthrogryposis, renal dysfunction, and cholestasis type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 501

VPS33B - arthrogryposis, renal dysfunction, and cholestasis type 1



€ 501

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:

  • Comprehensive preconception carrier test panel¹
  • Fetal akinesia panel
  • Hemostatic/thrombotic disorders panel
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Renal disorders panel
  • Skin disorders panel¹

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




€ 501