Waardenburg syndrome

MITF - Waardenburg syndrome type 2A

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)
• Hereditary cancer panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• panel Melanoma, basic (CDKN2A, CDK4, MITF p.(Glu318Lys)¹
• panel Melanoma, basic (CDKN2A, CDK4, MITF p.(Glu318Lys)¹
• panel Melanoma, extensive (CDKN2A, CDK4, MITF p.(Glu318Lys), BAP1, POT1, TERT promoter)¹
• panel Melanoma, extensive (CDKN2A, CDK4, MITF p.(Glu318Lys), BAP1, POT1, TERT promoter)¹
• Skin disorders panel¹
• Vision disorders panel

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: 156845
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---

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

---

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

---

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

---