Summary of study measures with source and data collection time point
| Measure | Items | Source | Baseline | 12 months |
| Patient Baseline Questionnaire | Demographics (age, sex, gender, ethnicity, forward sortation index) | Participant | X | |
| Bleeding history (duration of symptoms, previous treatment, history of iron deficiency) | Participant | X | ||
| Patient burden (travel time to appointment, associated travel costs) | Participant | X | ||
| Case report form | Reason for referral | Medical chart | X | |
| Medications | Medical chart | X | ||
| Comorbidities | Medical chart | X | ||
| Relevant obstetrical history (pregnant, postpartum, breastfeeding/pumping) | Medical chart | X | ||
| Transfusion history, red cell alloimmunisation | Medical chart | X | ||
| Testing timeline (date of initial appointment, date of first-line results, date of genetic results, date of diagnosis etc) | Medical chart | X | ||
| Diagnostic tests (including type of test, number of times completed, results) | Medical chart | X | ||
| Number of appointments for diagnostic purposes | Medical chart | X | ||
| Number of blood draws for diagnostic purposes | Medical chart | X | ||
| Genomic testing (details, results, implications for medical/surgical management) | Medical chart | X | ||
| Final diagnosis (complete, partial, uncertain, no diagnosis) | Medical chart | X | ||
| Bleeding Assessment Tool | Self-BAT | Participant | X | |
| HRQOL | PROMIS Profile CAT V.1.0-29 (for participants 18+ years) | Participant | X | X |
| PROMIS Ped Profile GenPop V.3.0—Profile 25 (for participants 12–17 years | Participant | X | X | |
| Menstrual Bleeding Questionnaire (for participants 18+ years who menstruate) | Participant | X | X | |
| Adolescent Menstrual Bleeding Questionnaire (for participants 12–17 years who menstruate) | Participant | X | X | |
| Patient Follow-Up Questionnaire | P-GUIDE: Patient-reported Genetic testing Utility InDEx | Participant | X |
HRQOL, health-related quality of life; Self-BAT, Self-Administered Bleeding Assessment Tool.