Back
Menu
Hereditary hemorrhagic telangiectasia (HHT) is characterized by multiple arteriovenous malformations (AVMs) and telangiectasia in specific locations. The most common symptom is nosebleeds.
Tests generally appear in the order most useful for common clinical situations
| Test name: Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing & Deletion/Duplication |
| ARUP #: 0051382 |
| Methodology: Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Analysis |
| Use: Confirm suspected HHT in individuals serving as the test index for a familial mutation Clinical sensitivity 85-90% |
| Limitations: Rare diagnostic errors can occur due to primer and probe site mutations Breakpoints of large deletions/duplication cannot be determined Regulatory region, intronic mutations, and mutations in genes other than ENG and ACVRL1 will not be detected |
| Test name: Familial Mutation, Targeted Sequencing |
| ARUP #: 2001961 |
| Methodology: Polymerase Chain Reaction/Sequencing |
| Use: Confirm or exclude HHT in an individual with a previously identified familial mutation |
| Limitations: Accuracy considered >99%; however, rare diagnostic errors can occur due to primer site mutations |
| Test name: Familial Mutation, Targeted Sequencing, Fetal |
| ARUP #: 2001980 |
| Methodology: Polymerase Chain Reaction/Sequencing |
| Use: Confirm or exclude HHT in a fetus when a familial mutation has previously been identified |
| Limitations: Accuracy considered >99%; however, rare diagnostic errors can occur due to primer site mutations |
| Test name: Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication |
| ARUP #: 2001971 |
| Methodology: Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification |
| Use: Confirm a diagnosis of JPS or JPS/HHT syndrome in symptomatic individuals Confirm a diagnosis of HHT in symptomatic individuals when no mutation was previously detected in the ENG and ACVRL1 genes |
| Limitations: Rare diagnostic errors can occur due to probe site mutations Breakpoints for large deletions/duplications will not be determined |
| Test name: Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing |
| ARUP #: 0051381 |
| Methodology: Polymerase Chain Reaction/Sequencing |
| Comments: Confirm suspected HHT in individuals serving as the test index for a familial mutation |
| Test name: Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Deletion/Duplication |
| ARUP #: 0051348 |
| Methodology: Polymerase Chain Reaction/Multiplex Ligation-dependent Probe |
| Comments: Confirm suspected HHT in individuals when no familial mutation was identified by previous sequencing Confirm suspected HHT in individuals after a familial duplication or deletion is identified |
| Test name: Juvenile Polyposis (SMAD4) Deletion/Duplication |
| ARUP #: 2001976 |
| Methodology: Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification |
| Comments: Confirm JPS or JPS/HHT syndrome in symptomatic individuals Confirm HHT in symptomatic individuals when no mutation was previously detected in the ENG and ACVRL1 genes |