CoGenesis® Skeletal
NGS virtual panel covering 815 genes across 10 disease panels (Skeletal disorders)
CoGenesis® Skeletal is a next-generation sequencing virtual panel of 815 genes spanning 10 disease groups, including osteogenesis imperfecta and bone fragility, short-limbed skeletal dysplasias, craniosynostosis, ciliopathies with skeletal involvement, spondyloepiphyseal dysplasias, and related ectodermal and dental syndromes. It is designed for patients with ambiguous radiographic features where more than 450 described skeletal disorders overlap clinically. A molecular diagnosis informs orthopaedic management, fracture-risk mitigation, and eligibility for targeted therapy such as burosumab for X-linked hypophosphataemia or asfotase alfa for hypophosphatasia.
- Establishing a molecular diagnosis in suspected skeletal dysplasia of pre- or postnatal onset.
- Distinguishing osteogenesis imperfecta subtypes and other hereditary causes of bone fragility.
- Identifying actionable diagnoses eligible for disease-specific therapy (e.g., achondroplasia, hypophosphatasia, X-linked hypophosphataemia).
- Supporting reproductive counselling and cascade testing.
- Diagnosing acquired skeletal disease caused by trauma, nutritional deficiency, endocrine disorder, or malignancy.
- Detecting mosaic variants, repeat expansions, or large structural rearrangements outside the intended variant types.
- Replacing skeletal survey, DEXA, or endocrine evaluation.
- Serving as a stand-alone diagnostic tool without clinical and radiographic correlation.
10 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.
The 2019 nosology of genetic skeletal disorders lists 461 conditions involving 437 genes across 42 clinical groups. Fetal skeletal dysplasia has a reported prevalence of 2.3–4.5 per 10,000 births. Clinical and radiographic overlap is substantial, and comprehensive NGS testing has achieved molecular diagnosis in approximately 27% of unrelated probands in the largest cohorts, with higher yields in classically presenting disorders. FGFR3, ALPL, and COL1A1 together account for roughly 40% of molecular diagnoses. Establishing the underlying genetic cause shortens the diagnostic odyssey, refines fracture risk and surveillance, informs surgical planning, and may identify patients eligible for targeted therapies including vosoritide (achondroplasia), burosumab (X-linked hypophosphataemia), and asfotase alfa (hypophosphatasia).
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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