HADL
Hematology Advanced Diagnostics Laboratory (HADL) was established to offer patients access to specialty testing, even when they were not covered by insurance or were unable to pay themselves.
Dr. Diane Nugent founded the Center for Comprehensive Care and Diagnosis of Inherited Blood Disorders (CIBD), a non-profit organization with the goal of serving children and adults with genetic blood disorders, and their families. Inherited blood disorders are rare, chronic diseases that can have many physical complications, as well as significant emotional, social, and financial burdens on patients and their families.
It quickly became apparent there was a vast need for access to specialty lab testing for diagnosis. Hematology Advanced Diagnostics Laboratory (HADL) was established to offer patients access to specialty testing even when they were not covered by insurance or were unable to pay themselves. Hematology Advanced Diagnostics Laboratory (HADL) was CAP/CLIA certified in 2009 with Diane J. Nugent, M.D. as Medical Director.
Mission Statement
- To improve diagnostic services for patients with rare blood disorders within CHOC and its affiliated hospitals.
- To extend services to Region IX Bleeding Disorder patients and providers to improve outcomes and provide genetic and diagnostic assays currently unavailable to this community.
- To create a new national venue for the diagnosis of rare hematologic disorders.
Clinical Genetic Testing for Rare Blood Disorders
Available to All Federally Funded Hemophilia Treatment Centers
Clinical genetic testing is available for immediate clinical use by all HTCs. This is not a research study and is offered at no cost to the patient, insurance, or HTC (excluding specimen shipping). Participation in the ATHNdataset Registry is encouraged but not required.
Available to All HTCs
Immediate clinical testing - not a research project.
No-Cost Testing
No cost to the patient, insurance, or HTC (shipping only).
Simple Submission
One EDTA tube plus required forms.
Implementation Support
Contact our team with questions or to begin offering testing.
What the Testing Includes:
Next-generation sequencing (NGS) utilizing whole-gene sequencing—including exons, introns, and 1,500 nucleotides upstream and downstream—for genes associated with:
- Ultra-rare factor deficiencies
- Platelet dysfunction
- Thrombocytopenia
- Thrombophilia
The panel is designed to detect a broad range of clinically significant variants, including:
- Missense variants
- Large deletions
- Splice site variants
- Copy number variants (CNVs)
- Early stop codon mutations
Submission Requirements:
To submit a specimen, please include:
✔ One EDTA specimen tube
- Ship overnight (shipping expense covered by the submitting site)
- No specimen processing required
- Ambient storage and shipping
✔ Completed Molecular Panel Requisition Form
✔ Completed Bleeding Tendency Rubric
Both forms must accompany every specimen.
Need Assistance?
Please contact Christina Ashburner: Cashburner@cibd-ca.org
HADL Testing
The Hematology Advanced Diagnostics Laboratory performs moderate and high complexity testing. The following tests are offered at this time (new assays are being worked on every day):
- Factor VIII Activity
- Factor IX Activity
- Factor VIII Chromogenic
- Hemoglobin Electrophoresis Assays
- Lymphocyte Subset Panel – TBNK by Flow Cytometry
- Plasma Low Hemoglobin
- Platelet Aggregation
- Platelet Function Analyzer (PFA) – 100
- Platelet Mapping TEG (response to anti-platelet therapy and platelet function studies)
- Thrombelastograph (TEG) Analysis (assess whole blood clotting)
- VerifyNow Aspirin Test
- VerifyNow PRU Test
- VWF Antigen
- ITGA2 (807) SNP Mutation Analysis
- Factor V Leiden Mutation Analysis
- Prothrombin – F2 Mutation Analysis
- MTHFR C677T Mutation Analysis
- MTHFR A1298C Mutation Analysis
- Molecular Hematology Panel