| possibly Gaucher's disease, but more likely a mis-oriented interpretation |
| Geno
|
Mag
|
Summary
|
| (C;C)
|
8
|
possibly Gaucher's disease, but more likely a mis-oriented interpretation
|
| (C;G)
|
3
|
Carrier of a Gaucher disease mutation
|
| (G;G)
|
0
|
common/normal
|
This genotype technically represents carrying two copies of the D409H mutation in the GBA gene, and thus most likely a form of Gaucher's disease. However, errors in interpretation for C/G transversion mutatations occur far more frequently than Gaucher's disease does, so this is likely to actually be an error.
Interpretation can be problematic due to orientation issues involving ambiguous flips
