Piebaldism

KIT - piebaldism

This test is available for the following conditions:

• Conditions > Skin > Piebaldism

This product is also part of the following panels:

• Hereditary cancer panel
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Mendelian inherited disorders panel with genome wide CNV analysis
• panel gastro-intestinal stroma tumor (KIT, PDGFRA)
• 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
• Deletion/duplication analysis (MLPA)

OMIM: 164920
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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SNAI2 - piebaldism

This test is available for the following conditions:

• Conditions > Skin > Piebaldism

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
• Deletion/duplication analysis (MLPA)

OMIM: 602150
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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