Table 1. Summary of Molecular Genetic Testing Used in Juvenile Hereditary Hemochromatosis (JHH)

Gene SymbolProportion of JHH Caused by Mutations in This GeneTest MethodMutations DetectedMutation Detection Frequency 1
HJV>90%Targeted mutation analysisp.Gly320ValSee footnote 2
Sequence analysis / mutation scanning 3Sequence variants 4>98%
HAMP<10%Sequence analysis / mutation scanning 3Sequence variants 4>98%

1. The ability of the test method used to detect a mutation that is present in the indicated gene

2. Most frequently reported mutation [Papanikolaou et al 2004]; identified in all affected French-Canadian individuals from the Saguenay-Lac-Saint-Jean region [Lanzara et al 2004]

3. Sequence analysis and mutation scanning of the entire gene can have similar detection frequencies; however, detection rates for mutation scanning may vary considerably among laboratories depending on the specific protocol used.

4. Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations.

From: Juvenile Hereditary Hemochromatosis

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