Deafness, X-linked

POU3F4 - X-linked deafness type 3 (DFN3)

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
• Analysis of one or more specific deletions
• Deletion/duplication analysis (MLPA)

OMIM: 300039
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---

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

---