For the biological term, see: Gene mutation analysis.

Targeted mutation analysis for the four most common GJB6 mutations is available on a clinical basis and detects mutations in approximately 100% of affected individuals.

However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit.

This family highlights the importance of mutation analysis in all patients with a suspected rhabdoid tumor.

A negative mutation analysis in at-risk relatives, however, is informative only after a disease-causing mutation has been identified in an affected relative.

In some families where the disease-causing mutation(s) is known and in certain genetic isolates, mutation analysis may be performed.

In addition, after a diagnosis is made by biochemical means, mutation analysis may be performed for certain disorders.

The diagnosis was confirmed by measuring the SR enzyme activity and mutation analysis.

The mutation analysis of the gene was performed using genomic DNA isolated from blood samples.

Over time, as knowledge of the mutation base has increased, mutation analysis has played an increasingly significant role.