Interpretation of Test Results

Genotype-phenotype correlations have been widely investigated in GD.14 While overlaps occur, some generalizations can be made. The presence of an N370S allele is predictive of type 1 disease. Individuals with L444P in the presence of a null allele will usually have type 2 GD, while homo-zygosity for L444P typically results in type 3 GD. Homo-zygosity for the D409H allele has been associated with the rarer cardiovascular form of GD. The phenotypic variation observed in GD is due to factors other than genotype alone, presumably involving the interplay of other genes, including modifier genes and environmental factors.

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