Table 1.

Molecular Genetic Testing Used in Deafness and Myopia Syndrome

Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
SLITRK6 Sequence analysis 34/4 4
Gene-targeted deletion/duplication analysis 5None reported 6
1.

See Table A. Genes and Databases for chromosome locus and protein.

2.

See Molecular Genetics for information on allelic variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.
5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

6.

From: Deafness and Myopia Syndrome

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