Waardenburg syndrome

PAX3 - Waardenburg syndrome type 1/3

This test is available for the following conditions:

• Conditions > Hearing impairment > Waardenburg syndrome

This product is often ordered in combination with:

• panel Waardenburg syndrome MLPA (PAX3, MITF, SOX10)

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
• Orofacial clefting panel with genome wide CNV analysis
• Short stature/skeletal dysplasia 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: 606597
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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SNAI2 - Waardenburg syndrome, type 2D

This test is available for the following conditions:

• Conditions > Hearing impairment > Waardenburg syndrome

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)

Remarks
For SNAI2 only deletions have been described. If only a heterozygous deletion is detected, sequence analysis can subsequently be performed.

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

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SOX10 - Waardenburg syndrome, type 2E

This test is available for the following conditions:

• Conditions > Hearing impairment > Waardenburg syndrome

This product is often ordered in combination with:

• panel Waardenburg syndrome MLPA (PAX3, MITF, SOX10)

This product is also part of the following panels:

• Craniofacial anomalies panel with genome wide CNV analysis
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hearing impairment panel (including GJB2)
• Hypogonadotropic hypogonadism (Kallmann) panel
• Intellectual disability panel with genome wide CNV analysis
• Liver disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• Polyneuropathies panel¹
• 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: 602229
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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panel Waardenburg syndrome MLPA (PAX3, MITF, SOX10)

This test is available for the following conditions:

• Conditions > Hearing impairment > Waardenburg syndrome

This product is often ordered in combination with:

• MITF - Waardenburg syndrome type 2A
• PAX3 - Waardenburg syndrome type 1/3
• SOX10 - Waardenburg syndrome, type 2E

Turnaround time
8 weeks

Method

• Deletion/duplication analysis (MLPA)

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

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