NL
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
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
- 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
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
- 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
