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:
- panel Alport syndrome (COL4A3, COL4A4, COL4A5) ¹
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (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:
120070
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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:
- panel Alport syndrome (COL4A3, COL4A4, COL4A5) ¹
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (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:
120131
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
