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PATIENT Name: Date of Birth: Gender: Xcode ID: |
SPECIMEN Specimen Type: Collection Date: Recieved Date: Report Date: |
Ordered by Physician: Genetic Counselor: Self: |
Test: Hereditary Hemochromatosis (HFE‑Related) Clinical history and indications: |
Gene | RSID | Change | Classification | Zygosity |
---|---|---|---|---|
{{item.gene}} | {{item.rsid}} | {{item.name}} | {{item.clinical_significance}} | {{item.zygosity}} |
Disease Summary: {{data['disease description']}}
Cause : {{data['cause']}}
Genes and Mutation tested: HFE gene is tested. This report test for 68 mutations known to be clinically associated with Hemochromatosis type 1; Including tow most common mutations p.C282Y (c.845G>A) and p.H63D (c.187C>G).
Gene Description: {{data['gene description']}}
Inheritance Pattern: AUTOSOMAL RECESSIVE {{data['inheritance pattern']}}
Signs and Symptoms: {{data['symptoms']}}
Prevention: {{data['prevention']}}
Treatment and Management: {{data['treatment']}}
Interpretation : Pathogenic and likely pathogenic variants are reported; likely benign and benign variants were not reported. The pathogenicity potential of the identified variants were assessed by considering the predicted consequence, the biochemical properties of the codon change and the degree of evolutionary conservation as well as a number of reference population databases and mutation databases such as, but not limited, to the 1000 Genomes Project, gnomAD, ClinVar, and HGMD. The variants are evaluated by reviewing the relevant literature and databases suchas 1000 Genomes Project, Database of Genomic Variants, ExAC. Reporting was carried out using HGNC-approved gene nomenclature and mutation nomenclature following the HGVS guidelines.
Disclaimer: This test should not be regarded as investigational or for research. This test should be interpreted in context with other clinical findings.
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