Hidrotic Ectodermal Dysplasia (Clouston)

GJB6 - Clouston syndrome

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Hidrotic Ectodermal Dysplasia (Clouston)
• Conditions > Hearing impairment > Hidrotic Ectodermal Dysplasia (Clouston)

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Craniofacial anomalies panel with genome wide CNV analysis
• Hearing impairment panel (including GJB2)
• Mendelian inherited disorders panel with genome wide CNV analysis
• Skin disorders panel¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Analysis of one or more specific deletions

OMIM: 604418
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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