Table 1.

Molecular Genetic Testing Used in ANKRD26-Related Thrombocytopenia

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
ANKRD26 Sequence analysis 3, 442 of 42 reported probands 5
Gene-targeted deletion/duplication analysis 6Unknown 7
1.
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.

Must include sequencing of 5'UTR, which has a significant number of the known pathogenic variants

5.
6.

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.

7.

No data on detection rate of gene-targeted deletion/duplication analysis are available.

From: ANKRD26-Related Thrombocytopenia

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