Haemoglobinopathy trait or carrier testing (Version: )

Relevant disorders: R361
Signed off date: 14 Sept 2023
Panel types: GMS Rare Disease, GMS signed-off
2 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A