COL4A4 - Alport syndrome ¹

This test is available for the following conditions:

  • Conditions > Hearing impairment > Alport syndrome
  • Conditions > Renal / Nephrological > Alport syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • panel Alport syndrome (COL4A3, COL4A4, COL4A5) ¹
  • 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: 120131
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 520

Panel

panel Alport syndrome (COL4A3, COL4A4, COL4A5) ¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 520

panel Alport syndrome (COL4A3, COL4A4, COL4A5) ¹



€ 520

panel Alport syndrome (COL4A3, COL4A4, COL4A5) ¹

This test is available for the following conditions:

  • Conditions > Hearing impairment > Alport syndrome
  • Conditions > Renal / Nephrological > Alport syndrome

Turnaround time
8 weeks

Method

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

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA




€ 520
Gene

COL4A3 - Alport syndrome ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 520

COL4A3 - Alport syndrome ¹



€ 520

COL4A3 - Alport syndrome ¹

This test is available for the following conditions:

  • Conditions > Hearing impairment > Alport syndrome
  • Conditions > Renal / Nephrological > Alport syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • panel Alport syndrome (COL4A3, COL4A4, COL4A5) ¹
  • 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: 120070
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 520
Gene

COL4A4 - Alport syndrome ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 520

COL4A4 - Alport syndrome ¹



€ 520
Gene

COL4A5 - Alport syndrome ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 520

COL4A5 - Alport syndrome ¹



€ 520

COL4A5 - Alport syndrome ¹

This test is available for the following conditions:

  • Conditions > Hearing impairment > Alport syndrome
  • Conditions > Renal / Nephrological > Alport syndrome

This product is also part of the following panels:

  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • panel Alport syndrome (COL4A3, COL4A4, COL4A5) ¹
  • 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: 303630
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 520