CoGenesis® NF1/NF2
Neurofibromatosis Genetic testing for NF1 and NF2.
A genetic test for neurofibromatosis types 1 and 2, inherited conditions that cause benign and malignant nerve tumors. It helps confirm diagnosis, guide treatment decisions, and inform family risk assessment.
- Detect carriers of pathogenic variants in NF1, NF2 and 29 related genes
- Confirming diagnosis in patients with clinical features of neurofibromatosis
- Guiding treatment planning and family screening
Diagnosing non‑genetic nerve tumors or unrelated neurological conditions
| Step / Test | Accuracy | Notes |
|---|---|---|
| Variant calling – SNP | >99.9% | |
| Variant calling – Indel | >99% |
4mL peripheral blood (EDTA), 2mL saliva, 4 buccal swabs
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.
- Results should be interpreted alongside clinical features.
- Genetic counseling is recommended to explain inheritance, family risk, and management options.
Neurofibromatosis type 1 (NF1) and type 2 (NF2) are tumor predisposition syndromes mainly caused by mutations in the NF1 and NF2 genes. NF1 is characterized by café‑au‑lait spots, neurofibromas, optic pathway gliomas, and skeletal abnormalities. NF2 is associated with bilateral vestibular schwannomas, hearing loss, balance problems, and other nervous system tumors. Both conditions are inherited in an autosomal dominant manner, meaning a single altered gene copy can cause disease. Genetic testing helps confirm diagnosis, supports early surveillance for complications, and informs family members of their risk.
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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