Deafness, autosomal recessive

CABP2 - autosomal recessive deafness type 93

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 607314
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CDH23 - autosomal recessive deafness type 12 (DFNB12)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Hearing impairment panel (including GJB2)
• Hereditary cancer panel
• 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: 605516
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CLDN14 - autosomal recessive deafness type 29 (DFNB29)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 605608
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CLIC5 - Deafness, autosomal recessive (DFNB103)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 607293
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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DFNB59 - autosomal recessive deafness type 59

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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

Method

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

OMIM: 610219
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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ESRRB - autosomal recessive deafness type 35 (DFNB35)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 608565
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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FGF23 - familial hyperphosphatemic tumoral calcinosis

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Renal disorders panel
• 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

OMIM: 605380
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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GIPC3 - autosomal recessive deafness type 15 (DFNB15)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 608792
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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GRXCR1 - autosomal recessive deafness type 25 (DFNB25)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 613283
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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HGF - autosomal recessive deafness type 39 (DFNB39)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 142409
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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ILDR1 - autosomal recessive deafness type 42 (DFNB42)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 609739
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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KARS - autosomal recessive deafness type 89

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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

Method

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

OMIM: 601421
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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LOXHD1 - autosomal recessive deafness type 77 (DFNB77 )

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 613072
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MYO15A - autosomal recessive deafness type 3 (DFNB3)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 602666
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MYO3A - autosomal recessive deafness 30 (DFNB30)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 606808
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MYO6 - autosomal recessive deafness type 37 (DFNB37)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 607821
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MYO7A - autosomal recessive deafness type 2 (DFNB2)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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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OTOA - autosomal recessive deafness type 22 (DFNB22)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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
• Deletion/duplication analysis (MLPA)

OMIM: 607038
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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OTOF - autosomal recessive deafness type 9 (DFNB9)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 603681
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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OTOG - autosomal recessive deafness type 18B (DFNB18B)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 604487
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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OTOGL - autosomal recessive deafness type 84B (DFNB84B)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 614925
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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PCDH15 - autosomal recessive deafness type 23 (DFNB23)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 605514
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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PTPRQ - autosomal recessive deafness type 84 (DFNB84)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 603317
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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RDX - autosomal recessive deafness type 24

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 179410
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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SLC26A4 - autosomal recessive deafness type 4

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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
• Deletion/duplication analysis (MLPA)

Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 605646
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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SLC26A5 - autosomal recessive deafness type 61

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 604943
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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STRC - autosomal recessive deafness type 16 (DFNB16)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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
2 months

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Deletion/duplication analysis (MLPA)

OMIM: 606440
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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TECTA - autosomal recessive deafness type 21 (DFNB21)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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 recessive deafness type 7/11 (DFNB7)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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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TMPRSS3 - autosomal recessive deafness type 8/10 (DFNB8)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 605511
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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TPRN - autosomal recessive deafness type 79 (DFNB79)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 613354
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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TRIOBP - autosomal recessive deafness type 28 (DFNB28)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 609761
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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USH1C (HARMONIN) - autosomal recessive deafness type 18A (DFNB18A)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, autosomal recessive

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: 605242
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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