Deafness, X-linked

SMPX - X-linked deafness type 4 (DFN4)

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, X-linked

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: 300226
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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TIMM8A - X-linked deafness type 1 (DFN1) / Mohr-Tranebjaerg syndrome

This test is available for the following conditions:

• Conditions > Hearing impairment > Deafness, X-linked

This product is also part of the following panels:

• Hearing impairment panel (including GJB2)
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel
• 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: 300356
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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