NL
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
COCH - autosomal dominant deafness type 9 (DFNA9)
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:
603196
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
