Jervell and Lange-Nielsen syndrome

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:

• Arrhythmia and cardiac conduction disorders panel¹
• Comprehensive preconception carrier test panel¹
• Hearing impairment panel (including GJB2)
• Heart disorders panel¹
• Long QT syndrome panel¹
• Mendelian inherited disorders panel
• panel Arrhythmia targeting (13 genes) - LQT, SQT, BrS, CPVT, SSS ¹
• panel Jervell and Lange-Nielsen syndrome (KCNQ1, KCNE1) ¹

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

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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:

• Arrhythmia and cardiac conduction disorders panel¹
• Comprehensive preconception carrier test panel¹
• Hearing impairment panel (including GJB2)
• Heart disorders panel¹
• Long QT syndrome panel¹
• Mendelian inherited disorders panel
• panel Arrhythmia targeting (13 genes) - LQT, SQT, BrS, CPVT, SSS ¹
• panel Jervell and Lange-Nielsen syndrome (KCNQ1, KCNE1) ¹

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

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