CoGenesis® Rheumatological
NGS virtual panel covering 116 genes across 3 disease panels (Rheumatological disorders)
CoGenesis® Rheumatological is a next-generation sequencing virtual panel of 116 genes covering three disease groups: heritable disorders of connective tissue (including Ehlers-Danlos, Marfan, and Loeys-Dietz syndromes), autoinflammatory syndromes (including familial Mediterranean fever, cryopyrin-associated periodic syndromes, and TNF-receptor-associated periodic syndrome), and hereditary amyloidosis. It clarifies diagnosis in patients with overlapping rheumatologic features such as joint hypermobility, vascular fragility, recurrent unexplained fever, or systemic amyloid deposition, and guides targeted biological therapy and surveillance.
- Differentiating subtypes of Ehlers-Danlos syndrome and other heritable connective tissue disorders where clinical criteria overlap.
- Establishing molecular diagnosis of hereditary autoinflammatory syndromes to guide IL-1, IL-6, or TNF-directed therapy.
- Confirming hereditary amyloidosis, including transthyretin (ATTR) amyloidosis, and enabling early initiation of disease-modifying treatment.
- Supporting reproductive counselling and cascade testing.
- Diagnosing autoimmune or acquired inflammatory disease driven by non-genetic mechanisms.
- Detecting somatic variants, including VEXAS-like clonal disease, that require haematology-specific testing.
- Replacing specialised biochemical or histological amyloid typing.
- Serving as a stand-alone diagnostic tool without clinical correlation.
3 sub-panels included:
| Step / Test | Accuracy | Notes |
|---|---|---|
| Variant calling – SNP | >99.9% | |
| Variant calling – Indel | >99% |
4mL Peripheral blood (EDTA), 2mL saliva, or buccal swab
Preferred sample type:
- 4mL Blood (EDTA tube),
- Codex-provided buccal swabs (4 swabs)
- Codex-provided saliva collection kit (2mL)
Saliva or buccal swab sample collection: Follow the enclosed instructions; do not eat, drink, or smoke for 30 minutes before collection.
- Insufficient DNA quantity or poor DNA quality
- Improperly labeled or contaminated samples
- Degraded specimens due to incorrect storage or transport
- Non-human samples or inappropriate specimen types
Samples must be collected and submitted by a licensed healthcare professional.
- Keep Blood samples at 4–8°C after collection; avoid freezing, deliver within 48 hours of collection.
- Saliva or buccal swabs are stability in room temperature for up to 7 days. Address: Unit 220, 2/F, Building 16W, HKSTP, Pak Shek Kok, NT, Hong Kong. Tel: +852 3008 2560
- Results may identify pathogenic, likely pathogenic, or variants of uncertain significance (VUS).
- Positive findings can inform risk‑reducing strategies and treatment options.
- Genetic counseling is recommended to help families understand implications.
Heritable connective tissue disorders, monogenic autoinflammatory syndromes, and hereditary amyloidoses often present to rheumatology with overlapping features of pain, joint involvement, vascular compromise, or systemic inflammation. Ehlers-Danlos syndrome alone comprises 13 subtypes defined primarily by molecular cause, and subtype determines the risk of vascular rupture, uterine complications, and cardiac involvement. Autoinflammatory syndromes, driven by dysregulation of innate immunity, increase the risk of AA amyloidosis and respond to IL-1, IL-6, or TNF-directed biologics when identified early. Hereditary transthyretin (ATTR) and other amyloidoses are increasingly treatable with stabilisers, gene-silencing, and gene-editing therapies, making molecular confirmation time-critical. Panel-based NGS clarifies ambiguous clinical presentations and enables tailored management and family screening.
Hong Kong-based molecular diagnostics laboratory specialising in clinical genomics, precision oncology, and rare disease diagnosis. Accredited to ISO 27001 and GenQA standards.
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