Growth Disorders

WGS/WES gene panel testing covering 2 growth disorder panels and 36 unique genes, including BWS and other congenital overgrowth syndromes.

CoGenesis® Growth Disorders is a targeted next-generation sequencing (NGS) panel covering 36 genes across the spectrum of rare hereditary growth disorders. It is designed to resolve the underlying genetic cause in patients with unexplained overgrowth, macrocephaly, or growth deficiency.

Growth is regulated by a complex interplay of hormonal signalling, epigenetic programming, and cellular proliferation pathways. Disruption of any of these systems can produce either excessive growth (overgrowth syndromes) developmental delay, or growth failure. Early genetic diagnosis may change clinical management.

Beckwith-Wiedemann spectrum (BWSp): The panel covers the major molecular causes of BWSp, including imprinting control region defects at 11p15.5 through H19, IGF2, and KCNQ1OT1 analysis, loss-of-function variants in CDKN1C, and GPC3 mutations causing Simpson-Golabi-Behmel syndrome — a BWSp-related condition with similar overgrowth and Wilms tumour risk. DIS3L2 mutations causing Perlman syndrome (foetal gigantism with Wilms tumour predisposition) are also included.

Epigenetic overgrowth syndromes: A cluster of chromatin-remodelling and histone-modifying genes are included, whose germline disruption causes syndromic overgrowth with intellectual disability. NSD1 (Sotos syndrome, the most common epigenetic overgrowth syndrome, ~1 in 14,000 births); EZH2 (Weaver syndrome); DNMT3A (Tatton-Brown-Rahman syndrome); EED (Cohen-Gibson syndrome); SUZ12 (Imagawa-Matsumoto syndrome); SETD2 (Luscan-Lumish syndrome); PPP2R5D (Jordan syndrome); HIST1H1E (Rahman syndrome); and ASXL2 (Shashi-Pena syndrome) are covered.

PI3K/AKT/mTOR pathway disorders: The panel covers major pathway genes responsible for generalised and segmental overgrowth, macrocephaly, and brain malformations: PIK3CA, AKT3, MTOR, AKT2, and PTEN.

IGF axis and growth deficiency: IGF1, IGF1R, IGF2, IGFBP1, and IGFBP3 are included to identify monogenic causes of growth hormone insensitivity, primordial dwarfism, and IGF-related growth failure. Additional genes covering syndromic overgrowth and macrocephaly include CHD8, HMGA2, PLAG1, NFIB, NFIX, HERC1, BRWD3, ABCC9, PDGFRB, OFD1, RNF125, and ZBTB7A.

Confirming a genetic diagnosis has clinical implications: patients with BWSp-associated genes require standardised tumour surveillance; PTEN mutation carriers need lifetime cancer surveillance; PIK3CA, AKT, and MTOR mutations may direct eligibility for mTOR inhibitor therapy (sirolimus) in segmental overgrowth syndromes.

36-gene NGS panel for overgrowth syndromes, Beckwith-Wiedemann, PI3K/AKT/mTOR and IGF-axis growth disorders. Rare hereditary growth diagnosis. Hong Kong.

CoGenesis® Growth Disorders | 36-Gene Overgrowth & Growth Deficiency Panel | Codex Genetics

36-gene NGS panel for hereditary growth disorders: overgrowth syndromes, Beckwith-Wiedemann spectrum, IGF-axis defects, and PI3K/AKT/mTOR pathway.

CoGenesis® Growth Disorders

生长障碍

Beckwith-Wiedemann综合症等先天性过度生长及生长缺陷遗传病的基因诊断服务。

CoGenesis® 生长障碍是一个靶向下一代基因测序（NGS）组合，涵盖36个基因，适用于罕见遗传性生长障碍的全谱系诊断。本组合旨在为不明原因过度生长、巨头畸形或生长不足的患者寻找致病基因。

生长受到激素信号、表观遗传调控与细胞增殖通路等多重系统的精密协调。这些系统的紊乱均可导致过度生长（过度生长综合征）、发育迟缓或生长不足。早期基因诊断有助于改变临床管理。

Beckwith-Wiedemann谱系（BWSp）：本组合涵盖BWSp的主要分子病因，包括11p15.5染色体印记调控区缺陷（H19、IGF2、KCNQ1OT1分析）、CDKN1C功能丧失变异，以及导致Simpson-Golabi-Behmel综合征的GPC3突变。引发Perlman综合征（胎儿巨大症伴肾母细胞瘤易感性）的DIS3L2突变亦在覆盖范围之内。

表观遗传过度生长综合征：本组合纳入一系列染色质重塑及组蛋白修饰基因，其胚系突变可导致伴智力障碍的综合性过度生长。涵盖基因包括：NSD1（Sotos综合征，最常见的表观遗传过度生长综合征，约1/14,000）、EZH2（Weaver综合征）、DNMT3A（Tatton-Brown-Rahman综合征）、EED（Cohen-Gibson综合征）、SUZ12（Imagawa-Matsumoto综合征）、SETD2（Luscan-Lumish综合征）、PPP2R5D（Jordan综合征）、HIST1H1E（Rahman综合征）及ASXL2（Shashi-Pena综合征）。

PI3K/AKT/mTOR通路疾病：本组合覆盖负责全身性及节段性过度生长、巨头畸形及脑部畸形的主要通路基因：PIK3CA、AKT3、MTOR、AKT2及PTEN。

IGF轴与生长不足：纳入IGF1、IGF1R、IGF2、IGFBP1及IGFBP3，以识别生长激素抵抗、原发性侏儒症及IGF相关生长不足的单基因病因。其他涵盖综合性过度生长及巨头畸形的基因包括：CHD8、HMGA2、PLAG1、NFIB、NFIX、HERC1、BRWD3、ABCC9、PDGFRB、OFD1、RNF125及ZBTB7A。

确立基因诊断具有临床意义：BWSp相关基因携带者需接受标准化肿瘤监测；PTEN突变携带者需终身癌症监测；PIK3CA、AKT及MTOR突变可指导节段性过度生长综合征患者考虑mTOR抑制剂（西罗莫司）治疗。

36基因NGS组合，覆盖过度生长综合征、Beckwith-Wiedemann谱系、PI3K/AKT/mTOR通路及IGF轴生长疾病。罕见遗传性生长障碍基因诊断。香港。

CoGenesis® 生长障碍 | 36基因过度生长及生长不足基因组合 | Codex Genetics

涵盖36个基因的NGS遗传性生长障碍组合，包括过度生长综合征、Beckwith-Wiedemann谱系、IGF轴缺陷及PI3K/AKT/mTOR通路疾病。

CoGenesis® 生长障碍

生長障礙

Beckwith-Wiedemann綜合症等先天性過度生長及生長缺陷遺傳病的基因診斷服務。

CoGenesis® 生長障礙是一個靶向次世代基因定序（NGS）組合，涵蓋36個基因，適用於罕見遺傳性生長障礙的全譜系診斷。本組合旨在為不明原因過度生長、巨頭畸形或生長不足的患者尋找致病基因。

生長受到荷爾蒙信號、表觀遺傳調控與細胞增殖通路等多重系統的精密協調。這些系統的紊亂均可導致過度生長（過度生長綜合症）、發育遲緩或生長不足。早期基因診斷有助於改變臨床管理。

Beckwith-Wiedemann譜系（BWSp）：本組合涵蓋BWSp的主要分子病因，包括11p15.5染色體印記調控區缺陷（H19、IGF2、KCNQ1OT1分析）、CDKN1C功能喪失變異，以及導致Simpson-Golabi-Behmel綜合症的GPC3突變。引發Perlman綜合症（胎兒巨大症伴腎母細胞瘤易感性）的DIS3L2突變亦在覆蓋範圍之內。

表觀遺傳過度生長綜合症：本組合納入一系列染色質重塑及組蛋白修飾基因，其胚系突變可導致伴智力障礙的綜合性過度生長。涵蓋基因包括：NSD1（Sotos綜合症，最常見的表觀遺傳過度生長綜合症，約1/14,000）、EZH2（Weaver綜合症）、DNMT3A（Tatton-Brown-Rahman綜合症）、EED（Cohen-Gibson綜合症）、SUZ12（Imagawa-Matsumoto綜合症）、SETD2（Luscan-Lumish綜合症）、PPP2R5D（Jordan綜合症）、HIST1H1E（Rahman綜合症）及ASXL2（Shashi-Pena綜合症）。

PI3K/AKT/mTOR通路疾病：本組合覆蓋負責全身性及節段性過度生長、巨頭畸形及腦部畸形的主要通路基因：PIK3CA、AKT3、MTOR、AKT2及PTEN。

IGF軸與生長不足：納入IGF1、IGF1R、IGF2、IGFBP1及IGFBP3，以識別生長激素抵抗、原發性侏儒症及IGF相關生長不足的單基因病因。其他涵蓋綜合性過度生長及巨頭畸形的基因包括：CHD8、HMGA2、PLAG1、NFIB、NFIX、HERC1、BRWD3、ABCC9、PDGFRB、OFD1、RNF125及ZBTB7A。

確立基因診斷具有臨床意義：BWSp相關基因攜帶者需接受標準化腫瘤監測；PTEN突變攜帶者需終身癌症監測；PIK3CA、AKT及MTOR突變可指導節段性過度生長綜合症患者考慮mTOR抑制劑（西羅莫司）治療。

36基因NGS組合，覆蓋過度生長綜合症、Beckwith-Wiedemann譜系、PI3K/AKT/mTOR通路及IGF軸生長疾病。罕見遺傳性生長障礙基因診斷。香港。

CoGenesis® 生長障礙 | 36基因過度生長及生長不足基因組合 | Codex Genetics

涵蓋36個基因的NGS遺傳性生長障礙組合，包括過度生長綜合症、Beckwith-Wiedemann譜系、IGF軸缺陷及PI3K/AKT/mTOR通路疾病。

Growth Disorders

Available Tests

CoGenesis® Growth Disorders

Quick Links

Resources

Newsletter