The protein product of the HABP2 gene is a protease, which activates pro-urokinase. A common polymorphism is associated with susceptibility to carotid stenosis and venous thromboembolism. Also mutations are supposed to cause non-medullary thyroid cancer 5.
The HABP2 gene spans about 36,5kb on chromosome 10 (10q25-q26). Three splice variants are known. The largest consists of 13 exons.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |