Chanarin-Dorfman syndrome

ABHD5 - Chanarin-Dorfman syndrome ¹

This test is available for the following conditions:

• Conditions > Skin > Chanarin-Dorfman syndrome

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• 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

OMIM: 604780
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---