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panel Jervell and Lange-Nielsen syndrome (KCNQ1, KCNE1) ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Jervell and Lange-Nielsen syndrome
- Conditions > Hearing impairment > Jervell and Lange-Nielsen 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
KCNE1 - Jervell and Lange-Nielsen syndrome type 2 ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Jervell and Lange-Nielsen syndrome
- Conditions > Hearing impairment > Jervell and Lange-Nielsen syndrome
This product is also part of the following panels:
- panel Arrhythmia targeting (13 genes) - LQT, SQT, BrS, CPVT, SSS ¹
- panel Jervell and Lange-Nielsen syndrome (KCNQ1, KCNE1) ¹
- WES arrhythmia and cardiac conduction disorders ¹ (100.0% *)
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES long QT syndrome ¹ (100.0% *)
- WES Mendelian inherited 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:
176261
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KCNQ1 - Jervell and Lange-Nielsen syndrome
This test is available for the following conditions:
- Conditions > Cardiovascular > Jervell and Lange-Nielsen syndrome
- Conditions > Hearing impairment > Jervell and Lange-Nielsen syndrome
This product is also part of the following panels:
- panel Arrhythmia targeting (13 genes) - LQT, SQT, BrS, CPVT, SSS ¹
- panel Jervell and Lange-Nielsen syndrome (KCNQ1, KCNE1) ¹
- WES arrhythmia and cardiac conduction disorders ¹ (100.0% *)
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES long QT syndrome ¹ (100.0% *)
- WES Mendelian inherited 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:
607542
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
