Table 2.

Molecular Genetic Testing Used in ADTKD-UMOD

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
UMOD Sequence analysis 3>95% 4
Gene-targeted deletion/duplication analysis 5None reported to date 6
1.

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

2.

See Molecular Genetics for information on 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.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2017]

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.

No exon or whole-gene deletions or duplications have been reported as a cause of ADTKD-UMOD. This type of pathogenic variant would be an unlikely cause of this condition; thus, the clinical utility of such testing is unknown.

From: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD

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