Our Genetics Test Menu specializes in the pathogenesis of angioedema at the genetic level. Please visit our Angioedema Page for more information on angioedema pathophysiology and complement assays.
Create an order and access test results.
- Create an order from Our Client Portal or via Requisition Form
- Please be sure to obtain patient consent for genetic testing
- Access secure, encrypted results from our Client Portal
For more information on Genetic Testing:
Under maintenance.
Our Angioedema Genetic Test Menu
Individual HAE Gene Testing
HAE with C1 inhibitor deficiency
HAE with normal C1 inhibitor genes
Targeted Testing
HAE with C1 inhibitor deficiency
- Sequencing of the SERPING1 (OMIM 106100) coding region +/- 10 base pairs for exons 2-8
- SERPING1 exons 1-8 duplication/deletion testing
HAE with normal C1 inhibitor genes
- Sequencing of a known mutation variant in an OMIM HAE-related gene:
- F12
- KNG1
- ANGPT1
- PLG
- MYOF
- HS3ST6
- Duplication/deletion testing for F12 gene, exons 1-12, except exon 3
- Click here for details and descriptions for each gene on this panel
Targeted Testing
- Targeted testing for a SERPING1 coding variant, or variants listed in the nlC1INH table that have been previously identified in a family member
- Clinical confirmation of variants found in a research laboratory
Hereditary Angioedema (HAE) Panels
nlC1INH HAE Panel
HAE Panel
4 Gene HAE Panel I
4 Gene HAE Panel II
nlC1INH HAE Panel
- Sequencing of known variants in 6 OMIM HAE-related genes
- Genes tested:
- F12
- KNG1
- ANGPT1
- PLG
- MYOF
- HS3ST6
- Duplication/deletion testing for F12 gene, exons 1-12, except exon 3
HAE Panel
- All 7 genes (SERPING1 and nlC1INH genes)
- Sequencing of the SERPING1 (OMIM 106100) coding region +/- 10 base pairs for exons 2-8
- Sequencing of known variants in 6 OMIM HAE-related genes
- Genes tested:
- SERPING1
- F12
- KNG1
- ANGPT1
- PLG
- MYOF
- HS3ST6
- Duplication/deletion testing for SERPING1 gene, exons 1-8
- Duplication/deletion testing for F12 gene, exons 1-12, except exon 3
4 Gene HAE Panel I
- Genes tested:
- SERPING1
- F12
- KNG1
- ANGPT1
- Duplication/deletion testing for SERPING1 gene, exons 1-8
- Duplication/deletion testing for F12 gene, exons 1-12, except exon 3
4 Gene HAE Panel II
- Genes tested:
- SERPING1
- PLG
- MYOF
- HS3ST6
- Duplication/deletion testing for SERPING1 gene, exons 1-8
Angioedema Panels
Angioedema Panel
Whole Exome Sequencing
Angioedema Panel
- This gene panel sequences and analyzes 77 genes involved with complement, coagulation, and tissue kallikrein pathways
- Click here for details and descriptions for each gene on the panel
Whole Exome Sequencing
- Whole exome sequencing sequences in all protein-coding regions of the genome.
- Analysis reviews all identified variants along with relevant medical history to reveal diseases that a patient may have, develop, and/or pass down
- Must provide clinical information when submitting a sample
- Maternal and paternal samples in addition to proband samples are helpful
Click here for references.