Table 1.

Molecular Genetic Testing Used in Carbonic Anhydrase VA Deficiency

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method 3
CA5A Sequence analysis 4~50%
Deletion/duplication analysis 5~50%
1.
2.

See Molecular Genetics for information on allelic variants.

3.

Data derived from Marwaha et al [2020], Olgac et al [2020], and the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2017]

4.

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.

5.

Testing that identifies exon or whole-gene deletions/duplications not detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.

From: Carbonic Anhydrase VA Deficiency

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