HADL30 NGS Panel
Test Introduction
ResearchDx scientists partnered with Children’s Hospital of Orange County (CHOC) to develop a test to identify the genetics underlying rare blood disorders.
The assay utilizes Next-Generation Sequencing (NGS) to target a panel of 30 genes of interest, including low-complexity intronic and promoter regions. The test is named for the Hematology Advanced Diagnostic Laboratory (HADL) at the Center for Inherited Blood Disorders, founded by Dr. Diane Nugent. The Center has multiple locations, including CHOC, dedicated to identifying the causes of inherited blood disorders.
For more information about ordering this test visit www.cibd-ca.org/about
Test Description
In collaboration with the Hematology Advanced Diagnostics Laboratory (HADL), the CLIA-certified testing laboratory for CIBD, PacificDx (the CLIA-certified testing laboratory for ResearchDx) has designed a 24-gene targeted NGS sequencing panel (see Section 8.2) to interrogate genomic regions involved in rare bleeding disorders. The panel includes both exonic and intronic regions and enables the comprehensive genetic analysis of affected individuals.
| Genes | Exons |
| ADAMTS13 | 1-6,8-18,20-29 |
| F10 | 1-8 |
| F11 | 1-15 |
| F13A1 | 1-15 |
| F13B | 1-12 |
| F2 | 14 |
| F5 | 10 |
| F7 | 1-9 |
| FGA | 1-5 |
| FGB | 1-8 |
| FGG | 1-9 |
| GP1BA | 1-2 |
| GP1BB | 1-2 |
| GP6 | 1-8 |
| GP9 | 1-3 |
| ITGA2 | 1-30 |
| ITGA2B | 1-30 |
| ITGB1 | 1-16 |
| ITGB3 | 1-15 |
| LMAN1 | 1-13 |
| MCFD2 | 1-5 |
| MTHFR | 5,8 |
| MYH9 | 2-41 |
| P2RX1 | 1-12 |
| P2RY1 | 1 |
| P2RY12 | 1-3 |
| PLG | 1-19 |
| SERPINE1 | 1-9 |
| TBXA2R | 2-4 |
| WAS | 1-12 |
Test Ordering
Sample Collection and Shipping Instructions
- Collect a total of 20 mL of whole blood into the 2 K2-EDTA tubes
- Sample shipment to testing laboratory must occur within 7 days of blood draw