Metabolic Disorders

WGS/WES gene panel testing covering 9 metabolic disease panels and 1,001 unique genes, including lysosomal storage, mitochondrial, peroxisomal, and urea cycle 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.

WGS virtual panel of 1,001 genes for inborn errors of metabolism, lysosomal storage disease, mitochondrial disease, and CDG.

CoGenesis® Metabolic | Inborn Errors of Metabolism Genomic Panel | Codex Genetics HK

CoGenesis® Metabolic

代谢疾病

溶酶体储积症、有机酸血症等先天性代谢疾病的全面基因诊断服务。

CoGenesis® Metabolic 是一项次世代定序 (NGS)虚拟基因组合，覆盖九大疾病群共 1,001 个基因，包括氨基酸与有机酸代谢疾病、脂肪酸氧化缺陷、溶酶体贮积症、线粒体疾病及先天性糖基化异常。该检测可帮助厘清先天性代谢异常常见的广泛表型重叠，也可在肝脏未成熟或肠外营养可能干扰生化检测时，用于确认新生儿筛查异常结果。分子层面的诊断有助于制定饮食控制、药物治疗与底物减少等管理策略，并识别具有风险的家系成员。

WGS 虚拟基因组合，覆盖 1,001 个与先天性代谢异常、溶酶体贮积症、线粒体疾病与 CDG 相关基因。

CoGenesis® Metabolic｜先天性代谢异常基因组合｜Codex Genetics HK

全面的先天性代谢疾病基因组合，涵盖溶酶体储积症、有机酸血症等多个疾病类别。

CoGenesis® 代谢疾病

代謝疾病

溶酶體儲積症、有機酸血症等先天性代謝疾病的全面基因診斷服務。

CoGenesis® Metabolic 是一項次世代定序 (NGS)虛擬基因組合，涵蓋九大疾病群共 1,001 個基因，包括胺基酸與有機酸代謝疾病、脂肪酸氧化缺陷、溶小體儲積症、粒線體疾病及先天性醣化異常。此檢測可協助釐清先天性代謝異常常見的廣泛表型重疊，亦可在肝臟未成熟或全靜脈營養可能干擾生化檢查時，用於確認新生兒篩檢異常結果。分子層級的診斷有助於制定飲食控制、藥物治療與底物減量等管理策略，並辨識具有風險的家族成員。

NGS虛擬基因組合，涵蓋 1,001 個與先天性代謝異常、溶小體儲積症、粒線體疾病與 CDG 相關基因。

CoGenesis® Metabolic｜先天性代謝異常基因組合｜Codex Genetics

全面的先天性代謝疾病基因組合，涵蓋溶酶體儲積症、有機酸血症等多個疾病類別。

Metabolic Disorders

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CoGenesis® Metabolic

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