Deafness, autosomal dominant

ACTG1 - autosomal dominant deafness type 20 (DFNA20/26)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

• Craniofacial anomalies panel with genome wide CNV analysis
• Hearing impairment panel (including GJB2)
• Intellectual disability panel with genome wide CNV analysis
• 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

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 102560
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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COL11A2 - autosomal dominant deafness type 13 (DFNA13)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

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

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 120290
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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DFNA5 - autosomal dominant deafness type 5

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

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

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries
• PCR followed by fragment (length) analysis

Remarks
All described mutations in DFNA5 result in the absence of exon 8 (193 bp) in the mRNA, causing a frame shift starting at aminoacid 330

OMIM: 608798
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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DIAPH1 - autosomal dominant deafness type 1 (DFNA1 )

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Hearing impairment panel (including GJB2)
• Hemostatic/thrombotic disorders panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Primary immunodeficiencies panel

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 602121
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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EYA4 - autosomal dominant deafness type 10 (DFNA10 )

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

• Hearing impairment panel (including GJB2)
• Mendelian inherited disorders panel with genome wide CNV analysis

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 603550
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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GJB2/GJB6 - autosomal dominant deafness type 3 (DFNA3)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

Remarks
Autosomal deafness type 3 (DFNA3) is caused either by a mutation in GJB2 or GJB6. Both genes will be analysed.

OMIM: 121011
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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GJB3 - autosomal dominant deafness type 2B

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Hearing impairment panel (including GJB2)
• Mendelian inherited disorders panel with genome wide CNV analysis
• Neuropathies panel¹
• panel erythrokeratodermia variabilis (GJB3, GJB4)¹
• 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: 603324
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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GJB6 - autosomal dominant deafness type 3B

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

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

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GRHL2 - autosomal dominant deafness type 28

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

• Dyskeratosis congenita and aplastic anemia panel
• Hearing impairment panel (including GJB2)
• Hereditary cancer panel
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Mendelian inherited disorders panel with genome wide CNV analysis
• Primary immunodeficiencies panel
• 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

OMIM: 608576
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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KCNQ4 - autosomal dominant deafness type 2 (DFNA2)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

• Hearing impairment panel (including GJB2)
• Mendelian inherited disorders panel with genome wide CNV analysis

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 603537
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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KITLG - autosomal dominant deafness type 69, unilateral or asymmetric (DFNA69)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

• 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

OMIM: 184745
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MYH9 - autosomal dominant deafness type 17 (DFNA17)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

• Hearing impairment panel (including GJB2)
• Hemostatic/thrombotic disorders panel
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Renal disorders panel

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 160775
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MYO6 - autosomal dominant deafness type 22 (DFNA22)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

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

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 600970
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MYO7A - autosomal dominant deafness type 11 (DFNA11)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

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

OMIM: 276903
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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POU4F3 - autosomal dominant deafness type 15 (DFNA15 )

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

• Hearing impairment panel (including GJB2)
• Mendelian inherited disorders panel with genome wide CNV analysis

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 602460
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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TECTA - autosomal dominant deafness type 8/12 (DFNA8/12)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

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

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 602574
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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TMC1 - autosomal dominant deafness type 36 (DFNA36)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

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

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 606706
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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WFS1 - autosomal dominant deafness type 6/14 (DFNA6/14)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal dominant

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Hearing impairment panel (including GJB2)
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• 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

OMIM: 606201
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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