| 【細胞遺傳學檢查】 |
【基因檢測】 |
| 羊水染色體檢查 |
螢光染色體雜交檢查(FISH) |
| 血液染色體檢查 |
Marker chromosome 鑑定 |
| 產前臍血染色體查 |
Cyto ScanTM基因晶片檢測 |
| 非侵入性產前胎兒染色體檢測 |
非侵入性產前胎兒染色體檢測(Noninvasive Prenatal Testing;NIPT) |
| 絨毛染色體檢查 |
貝克威斯-威德曼症侯群之H19基因甲基化異常檢驗[國內罕見疾病檢驗補助方案] |
| 流產物染色體檢查 |
貝克威斯-威德曼症侯群之LIT1基因甲基化異常檢驗[國內罕見疾病檢驗補助方案] |
| 特殊染色法(Special stain) |
科凱因氏症A型(ERCC8)之全基因定序篩檢[國內罕見疾病檢驗補助方案] |
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科凱因氏症B型(ERCC6)之全基因定序篩檢[國內罕見疾病檢驗補助方案] |
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囊腫性纖維化症(CFTR基因)之全基因定序篩檢[國內罕見疾病檢驗補助方案] |
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色素失調症(NEMO基因)之全基因定序篩檢[國內罕見疾病檢驗補助方案] |
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尼曼匹克症(NPC1基因)之全基因定序篩檢[國內罕見疾病檢驗補助方案] |
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A型血友病(第八凝血因子)之INV1及INV22篩檢 |
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A型血友病(第八凝血因子)之全基因定序篩檢 |
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Interphase FISH screening for Trisomy 13, 18, 21 |
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小胖烕利症/ 安裘曼氏症(Prader-Willi Syndrome/ Angelman syndrome) |
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甲型地中海貧血SEA亞型篩檢 |
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威廉氏症( Williams Syndrome) |
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胚胎植入前之螢光染色篩檢套組(5顆細胞內) |
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迪喬治症侯群(Di-George Syndrome) |
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逢希伯－林道症候群(VHL基因)之全基因定序篩檢 |
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聽障基因篩檢GJB2 gene (connexin-26) Mutation Screening |
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體染色體隱性多囊性腎臟病(PKHD1基因)之全基因定序篩檢 |
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Miller Dieker症候群Miller-Dieker Syndrome |
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人類全套染色体端粒檢測 (Subtelomeric Microdeletion Syndromes) |
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性別決定基因缺失檢測 (SRY deletion) |
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Antiphospholipid antibodies syndrome (APS) ; MTHER gene |
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ARC syndrome; VPS33B gene |
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Branchio-Oto-Renal (BOR) syndrome ; EYA1 gene |
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LEOPARD 症症候群 LEOPARD Syndrome, PTPN11 gene , RAF1 gene |
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Leucocyte Adhesion Deficient (LAD); ITGB1 gene |
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Lowe 氏症候群 Lowe syndrome; OCRL gene |
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Lymphedema-distichiasis syndrome; FOXC2 gene |
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Norrie disease; NDP gene |
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Pulmonary lymphangiectasia; ITGA9 gene |
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Pulmonary lymphangiectasia; ITGB1 gene |
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Pulmonary lymphangiectasia; VEGFR3 gene |
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Restrictive Dermopathy; ZMPSTE24 gene |
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Retinoblastoma; RB1 gene |
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Spondylocostal dysostosis ; DLL3 gene |
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Treacher Collins 氏症候群Treacher Collins syndrome |
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Treacher Collins 氏症候群Tuberous sclerosis; TSC1 gene |
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Treacher Collins 氏症候群Tuberous sclerosis; TSC2 gene |
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Varicella DNA determination ; VZV gene |
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Y deletion ; AZF microdeletion |
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毛囊角化症Darier's disease或Darier-White Disease ; ATP2A2 gene |
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肌肉強直症 Myotonic Dystrophy; DMPK gene |
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色素失禁症Incontinentia Pigment; NEMO gene |
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努南氏症候群Noonan Syndrome; PTPN11 SOS1 RAF1 KRAS |
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男性不孕遺傳基因檢測(AZF microdeletion, SRY, CFTR) |
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芳香族L-胺基酸類脫羧基酶缺乏症Aromatic L-amino acid decarboxylase deficiency; AADC gene |
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威爾森氏症(ATP7B基因)之全基因定序篩檢 |
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玻璃娃娃成骨不全基因檢測 (Osteogenesis Imperfecta, COL1A1基因) |
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玻璃娃娃成骨不全基因檢測 (Osteogenesis Imperfecta, COL1A2基因) |
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家族性魚鱗癬 (X-linked ichthyosis, STS gene) |
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神經線纖維瘤Neurofibromatosis type 1; NF1gene |
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神經線纖維瘤病Neurofibromatosis type 2 ; NF2 gene |
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智障基因X染色體脆折症基因檢測(Fragile X, FMR1基因) |
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結節性硬化症 (TSC1/2)Tuberous Sclerosis |
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微小病毒B19型Parvovirus B19; B19 gene |
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蕾特氏症Rett syndrome; MeCP2 gene |
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囊狀纖維化Cystic Fibrosis; CFTR gene |
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外顯子遺傳疾病篩檢次世代基因定序檢測 |
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外顯子遺傳疾病帶因篩檢次世代基因定序檢測 |