CoGenesis® Metabolic
NGS virtual panel covering 1001 genes across 9 disease panels (Metabolic disorders)
CoGenesis® Metabolic is a next-generation sequencing virtual panel that interrogates 1,001 genes across nine disease groups, including amino acid and organic acid disorders, fatty acid oxidation defects, lysosomal storage diseases, mitochondrial disorders, and congenital disorders of glycosylation. It resolves the broad phenotypic overlap seen in inborn errors of metabolism and confirms abnormal newborn screening results when liver immaturity or parenteral nutrition may confound biochemical testing. A molecular diagnosis informs dietary, pharmacological, and substrate-reduction strategies and identifies family members at risk.
- Confirming or differentiating inborn errors of metabolism in symptomatic individuals with overlapping biochemical phenotypes.
- Clarifying abnormal newborn screening results where biochemical testing is ambiguous.
- Guiding disease-specific management, including dietary restriction, cofactor supplementation, enzyme replacement therapy, and substrate-reduction therapy.
- Supporting cascade testing and reproductive risk counselling for at-risk relatives.
- Diagnosing metabolic decompensation driven by non-genetic causes such as sepsis, toxin exposure, or drug effect.
- Replacing biochemical, enzymatic, or metabolite testing required for diagnosis of specific disorders.
- Detecting structural variants, repeat expansions, or epigenetic changes outside the intended variant types.
- Serving as a stand-alone diagnostic tool without clinical and biochemical correlation.
9 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.
Inborn errors of metabolism (IEM) comprise more than 1,000 inherited disorders caused by disruption of enzymes, transporters, or cofactors within core metabolic pathways. Individually rare, their collective incidence is estimated at 1 in 800 to 1 in 2,500 live births. Most IEM follow autosomal recessive inheritance, although X-linked and mitochondrial forms exist. Clinical presentations are highly heterogeneous and range from neonatal decompensation to adult-onset organ-specific disease, making phenotype-driven testing unreliable. Many IEM are treatable through dietary intervention, cofactor supplementation, enzyme replacement, or substrate-reduction therapy; early molecular diagnosis therefore materially influences outcome. Comprehensive NGS shortens the diagnostic odyssey, clarifies ambiguous newborn screening results, and enables reproductive risk counselling.
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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