Igenomix新生兒篩檢（IGX-NBS）－使用次世代定序技術(NGS)分析多達104個基因的全面性基因檢測。
概述
IGX-NBS採用的NGS 技術可同時分析多種遺傳性疾病，涵蓋的檢測範圍比國建署 所提供的新生兒篩檢項目更加廣泛。
採用NGS技術的優勢/臨床應用
Igenomix使用次世代定序（NGS）技術進行新生兒篩檢 vs. 串聯質譜分析法（tandem MS-MS）
使用次世代定序(NGS)的優勢：
適應症
新生兒篩檢所納入的遺傳性疾病項目，收錄標準如下：
IGX-NBS 納入的檢測項目包含來自常規新生兒篩檢（足跟採血檢測）以及建議的統一篩檢組 (RUSP) 之中的所有疾病：
Igenomix 的新生兒篩檢所納入的疾病可分為以下幾群。於下表中可找到每個疾病群所包含的疾病範例。
| 疾病群 | 疾病 | 病徵和症候群 | 患者管理 | 結果 |
| 新陳代謝疾病 | 楓糖尿症 | 其特點是進食狀況不佳、嗜睡、嘔吐、耳垢和尿液中出現楓糖漿味，腦部病變和中樞性呼吸衰竭（如果不治療）。 | 飲食療法用以減少有毒代謝物並補充缺乏的氨基酸的血漿濃度。 | 無症狀正常生活 |
| 免疫不全疾病 | 嚴重複合型免疫缺乏症(SCID) | 由於伺機性病菌的復發、日益嚴重的感染和無法生長而出現。 | 使用抗生素、抗真菌藥、抗病毒藥和抗體替代療法進行預防的保護措施。 | 減少感染的發生率，減緩病症發展並改善預後。 |
| 神經疾病 | 威爾森氏症 | 病患出現腹痛、黃疸、肝脾腫大、腹水、上消化道出血和精神狀態改變。 | 及早開始使用銅螯合藥物 | 減少銅累積，避免不可逆的受損。 |
| 肺部疾病 | 囊性纖維化 | 新生兒出現直腸脫垂、胎糞性腸阻塞、呼吸道感染、胰腺功能不全、發育遲緩等症狀。 | 及早開始進行肺部治療、營養治療、抗生素預防、疫苗接種以及使用支氣管擴張劑。 | 降低感染發生率、維持肺功能。減緩病狀發展並改善預後。 |
| 內分泌疾病 | 先天性甲狀腺低能症 | 大多數嬰兒是無症狀的，有症狀的嬰兒通常表現為嗜睡、聲音嘶啞、餵食困難、便秘、粘液性水腫、巨舌症等。 | 早期開始甲狀腺激素替代療法（口服左旋甲狀腺素）。 | 通過智商(IQ)監測，預防出現神經認知能力受損。 |
| 耳鼻喉疾病 | 遺傳性聽力受損* | 嬰兒很可能一直保持無症狀直到幼兒期時在理解單字、聽到輔音、迴避社交環境等方面出現問題。 | 及早開始使用助聽器並進行語言治療。 | 防止發育和語言發展遲緩。 |
| 血色素病變 | 鐮狀細胞性貧血 | 新生兒出現嚴重貧血、血管阻塞危機、慢性腹痛、脾功能減退和感染。 | 及早介入預防急性併發症，以及進行造血幹細胞移植。 | 預防復發性急性血管阻塞發作，成功的造血幹細胞移植可實現正常的無症狀生活。 |
| 神經肌肉疾病 | 脊髓性肌肉萎縮症 | 特點是下肢瀰漫性及對稱性的近端肌無力嚴重度大於上肢，深部肌腱反射消失或明顯減弱。 | 及早開始進行疾病改善療法和支持療法 | 改善生活品質並提高受影響個體的存活率。 |
| Gene symbol | Disease name | Disease group | Inheritance |
| ABCD1 | Adrenoleukodystrophy | Metabolic disorder- Fatty acid oxidation | XL |
| ABCD4 | Methylmalonic aciduria and homocystinuria, cblJ type | Metabolic disorder- Organic acid | AR |
| ACAD8 | Isobutyryl-CoA dehydrogenase deficiency | Metabolic disorder- Organic acid | AR |
| ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency of | Metabolic disorder- Fatty acid oxidation | AR |
| ACADS | Acyl-CoA dehydrogenase, short-chain, deficiency of | Metabolic disorder- Fatty acid oxidation | AR |
| ACADSB | 2-methylbutyrylglycinuria | Metabolic disorder- Organic acid | AR |
| ACADVL | VLCAD deficiency | Metabolic disorder- Fatty acid oxidation | AR |
| ACAT1 | Alpha-methylacetoacetic aciduria | Metabolic disorder- Organic acid | AR |
| ADA | Severe combined immunodeficiency due to ADA deficiency | Immunodeficiency disorder | AR |
| ADK | Hypermethioninemia due to adenosine kinase deficiency | Metabolic disorder- Amino acid | AR |
| AHCY | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | Metabolic disorder- Amino acid | AR |
| ALDH4A1 | Hyperprolinemia, type II | Metabolic disorder- Amino acid | AR |
| AMT | Glycine encephalopathy | Metabolic disorder- Amino acid | AR |
| ARG1 | Argininemia | Metabolic disorder- Amino acid | AR |
| ASL | Argininosuccinic aciduria | Metabolic disorder- Amino acid | AR |
| ASS1 | Citrullinemia | Metabolic disorder- Amino acid | AR |
| ATP7B | Wilson disease | Metabolic disorder- Copper | AR |
| AUH | 3-methylglutaconic aciduria, type I | Metabolic disorder- Organic acid | AR |
| BCKDHA | Maple syrup urine disease, type Ia | Metabolic disorder- Amino acid | AR |
| BCKDHB | Maple syrup urine disease, type Ib | Metabolic disorder- Amino acid | AR |
| BTD | Biotinidase deficiency | Metabolic disorder- Amino acid | AR |
| CBS | Homocystinuria, B6-responsive and nonresponsive types | Metabolic disorder- Amino acid | AR |
| CFTR | Cystic fibrosis | Respiratory disorder | AR |
| CPT1A | CPT deficiency, hepatic, type IA | Metabolic disorder- Fatty acid oxidation | AR |
| CPT2 | CPT II deficiency, lethal neonatal | Metabolic disorder- Fatty acid oxidation | AR |
| CTH | Cystathioninuria | Metabolic disorder- Amino acid | AR |
| CYP11B1 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | Endocrine disorder | AR |
| CYP21A2 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | Endocrine disorder | AR |
| DBT | Maple syrup urine disease, type II | Metabolic disorder- Amino acid | AR |
| DNAJC12 | Hyperphenylalaninemia, mild, non-BH4-deficient | Metabolic disorder- Amino acid | AR |
| DUOX2 | Thyroid dyshormonogenesis 6 | Endocrine disorder | AR |
| DUOXA2 | Thyroid dyshormonogenesis 5 | Endocrine disorder | AR |
| ETFA | Glutaric acidemia IIA | Metabolic disorder- Organic acid | AR |
| ETFB | Glutaric acidemia IIB | Metabolic disorder- Organic acid | AR |
| ETFDH | Glutaric acidemia IIC | Metabolic disorder- Organic acid | AR |
| FAH | Tyrosinemia, type I | Metabolic disorder- Amino acid | AR |
| GAA | Glycogen storage disease II | Metabolic disorder- Glicogen storage | AR |
| GALE | Galactose epimerase deficiency | Metabolic disorder- Carbohydrate | AR |
| GALK1 | Galactokinase deficiency with cataracts | Metabolic disorder- Carbohydrate | AR |
| GALT | Galactosemia | Metabolic disorder- Carbohydrate | AR |
| GCDH | Glutaric acidemia, type I | Metabolic disorder- Organic acid | AR |
| GCH1 | Hyperphenylalaninemia, BH4-deficient, B | Metabolic disorder- Amino acid | AR |
| GCSH | ?Glycine encephalopathy | Metabolic disorder- Amino acid | AR |
| GJB2 | Deafness, digenic GJB2/GJB6 | Auditory disorder | AR |
| GJB6 | Deafness, digenic GJB2/GJB6 | Auditory disorder | AR |
| GLDC | Glycine encephalopathy | Metabolic disorder- Amino acid | AR |
| GNMT | Glycine N-methyltransferase deficiency | Metabolic disorder- Amino acid | AR |
| GSS | Glutathione synthetase deficiency | Metabolic disorder- Organic acid | AR |
| HADH | 3-hydroxyacyl-CoA dehydrogenase deficiency | Metabolic disorder- Fatty acid oxidation | AR |
| HADHA | LCHAD deficiency | Metabolic disorder- Fatty acid oxidation | AR |
| HADHB | Trifunctional protein deficiency | Metabolic disorder- Fatty acid oxidation | AR |
| HBB | Sickle cell anemia | Hemoglobin disorder | AR |
| HCFC1 | Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) | Metabolic disorder- Organic acid | XLR |
| HGD | Alkaptonuria | Metabolic disorder- Amino acid | AR |
| HLCS | Holocarboxylase synthetase deficiency | Metabolic disorder- Organic acid | AR |
| HMGCL | HMG-CoA lyase deficiency | Metabolic disorder- Organic acid | AR |
| HPD | Tyrosinemia, type III | Metabolic disorder- Amino acid | AR |
| HSD17B10 | HSD10 mitochondrial disease | Metabolic disorder- Organic acid | XLD |
| IDUA | Mucopolysaccharidosis Ih/s | Metabolic disorder- Lysosomal enzime | AR |
| IL2RG | Severe combined immunodeficiency, X-linked | Immunodeficiency disorder | XLR |
| IVD | Isovaleric acidemia | Metabolic disorder- Organic acid | AR |
| LMBRD1 | Methylmalonic aciduria and homocystinuria, cblF type | Metabolic disorder- Organic acid | AR |
| MAT1A | Methionine adenosyltransferase deficiency, autosomal recessive | Metabolic disorder- Amino acid | AR |
| MCCC1 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | Metabolic disorder- Organic acid | AR |
| MCCC2 | 3-Methylcrotonyl-CoA carboxylase 2, deficiency | Metabolic disorder- Organic acid | AR |
| MCEE | Methylmalonyl-CoA epimerase deficiency | Metabolic disorder- Organic acid | AR |
| MLYCD | Malonyl-CoA decarboxylase deficiency | Metabolic disorder- Organic acid | AR |
| MMAA | Methylmalonic aciduria, vitamin B12-responsive | Metabolic disorder- Organic acid | AR |
| MMAB | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | Metabolic disorder- Organic acid | AR |
| MMACHC | Methylmalonic aciduria and homocystinuria, cblC type | Metabolic disorder- Organic acid | AR |
| MMADHC | Methylmalonic aciduria and homocystinuria, cblD type | Metabolic disorder- Organic acid | AR |
| MMUT | Methylmalonic aciduria, mut(0) type | Metabolic disorder- Organic acid | AR |
| MTHFR | Homocystinuria due to MTHFR deficiency | Metabolic disorder- Amino acid | AR |
| MTR | Homocystinuria-megaloblastic anemia, cbl E type | Metabolic disorder- Amino acid | AR |
| MTRR | Homocystinuria due to MTHFR deficiency | Metabolic disorder- Amino acid | AR |
| MVK | Mevalonic aciduria | Metabolic disorder- Organic acid | AR |
| NADK2 | ?2,4-dienoyl-CoA reductase deficiency | Metabolic disorder- Fatty acid oxidation | AR |
| OTC | Ornithine transcarbamylase deficiency | Metabolic disorder- Amino acid | XLR |
| PAH | Phenylketonuria | Metabolic disorder- Amino acid | AR |
| PAX8 | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | Endocrine disorder | AD |
| PCBD1 | Hyperphenylalaninemia, BH4-deficient, D | Metabolic disorder- Amino acid | AR |
| PCCA | Propionic acidemia | Metabolic disorder- Organic acid | AR |
| PCCB | Propionic acidemia | Metabolic disorder- Organic acid | AR |
| PPM1K | ?Maple syrup urine disease, mild variant | Metabolic disorder- Organic acid | AR |
| PRDX1 | Methylmalonic aciduria and homocystinuria, cblC type, digenic | Metabolic disorder- Organic acid | AR |
| PRODH | Hyperprolinemia, type I | Metabolic disorder- Amino acid | AR |
| PTS | Hyperphenylalaninemia, BH4-deficient, A | Metabolic disorder- Amino acid | AR |
| QDPR | Hyperphenylalaninemia, BH4-deficient, C | Metabolic disorder- Amino acid | AR |
| RAG1 | Severe combined immunodeficiency, B cell-negative | Immunodeficiency disorder | AR |
| RAG2 | Severe combined immunodeficiency, B cell-negative | Immunodeficiency disorder | AR |
| SLC22A5 | Carnitine deficiency, systemic primary | Metabolic disorder- Fatty acid oxidation | AR |
| SLC25A13 | Citrullinemia, adult-onset type II | Metabolic disorder- Amino acid | AR |
| SLC25A20 | Carnitine-acylcarnitine translocase deficiency | Metabolic disorder- Fatty acid oxidation | AR |
| SLC3A1 | Cystinuria | Metabolic disorder- Amino acid | AR |
| SLC5A5 | Thyroid dyshormonogenesis 1 | Endocrine disorder | AR |
| SLC6A8 | Cerebral creatine deficiency syndrome 1 | Metabolic disorder- Fatty acid oxidation | XLR |
| SLC7A7 | Lysinuric protein intolerance | Metabolic disorder- Amino acid | AR |
| SLC7A9 | Cystinuria | Metabolic disorder- Amino acid | AR |
| SMN1 | Spinal muscular atrophy | Neuromuscular disorder | AR |
| TAT | Tyrosinemia, type II | Metabolic disorder- Amino acid | AR |
| TG | Thyroid dyshormonogenesis 3 | Endocrine disorder | AR |
| TPO | Thyroid dyshormonogenesis 2A | Endocrine disorder | AR |
| TSHB | Hypothyroidism, congenital, nongoitrous 4 | Endocrine disorder | AR |
| TSHR | Hypothyroidism, congenital, nongoitrous, 1 | Endocrine disorder | AR |
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