醫令碼中文名稱英文名稱 自費價格 
000X0002小兒代謝遺傳疾病檢查(MS/MS)Test for inborn errors of metabolism    2,000
000X0055芳香族L-胺基酸脫羧酵素缺乏症基因分析(Aromatic L-amino Acid Decarboxylase)AADC Deficiency   11,500
000X0123基因分析 Level1Genetic Analysis Level 1    1,500
000X0124基因分析 Level2Genetic Analysis Level 2    3,000
000X0125基因分析 Level3Genetic Analysis Level 3    8,000
000X0126基因分析 Level4Genetic Analysis Level 4   15,000
000X0131粒線體疾病:點突變1555Mitochondria nt1555 mutation(Deafness)      560
000X0132粒線體疾病:點突變3243Mitochondria nt3243 mutation(MELAS)      560
000X0133粒線體疾病:點突變8344Mitochondria nt8344 mutation(MERRF)      560
000X0134粒線體疾病:點突變8993Mitochondria nt8993 mutation(Leigh)      560
000X0135粒線體疾病:點突變11778Mitochondria nt11778 mutation(LHON)      560
000X0136脊髓小腦性共濟失調Spinocerebellar Ataxia type Ⅰ,Ⅱ,Ⅲ    2,000
000X0137齒狀紅核蒼白球萎縮症Dentato-rubro-pallido-luysian atrophy    1,000
000X0138脊髓小腦性共濟失調第17型Spinocerebellar Ataxia type ⅩⅦ    1,000
000X0139脊髓小腦性共濟失調第6型Spinocerebellar Ataxia type Ⅵ    1,000
000X0140亨丁頓舞蹈症Huntington Disease    2,000
000X0145粒線體疾病:點突變10191Mitochondria nt10191 mutation(Leigh)      560
000X0146粒線體疾病:點突變13513Mitochondria nt13513 mutation(MELAS)      560
000X0147甘迺迪氏症基因篩檢Kennedy's Disease Genetic Test    1,000
000X0148粒線體疾病點突變套組Mitochondria Disease Mutation Hot Spots Panel    3,300
000X0149粒線體疾病:點突變14484Mitochondrial nt14484 mutation(LHON)      560
000X0150粒線體疾病:點突變3460Mitochondrial nt3460 mutation(LHON)      560
000X0152粒線體去氧核醣核酸大片段缺失(4977bp缺失)Mitochondrial DNA large deletion(4977bp deletion)      520
000X0155粒線體DNA拷貝數目分析MtDNA copy number quantification test    2,500
000X0156粒線體DNA nt3243 A>G定量分析MtDNA  nt3243 A>G quantification test    2,500
000X0206基因分析 Level 5Genetic Analysis Level 5   20,000
000X0207核酸製備DNA Extration      500
000X0239次世代定序粒線體DNA基因變異檢測Next Generation Sequencing for Mitochondrial DNA Variation Test   25,000
000X0241次世代定序骨骼關節疾病相關基因變異檢測Next Generation Sequencing – Bone and joint diseases associated genes variation test (OI, EDS, Marfanoid)   30,000
000X0242次世代定序代謝性疾病相關基因變異檢測Next Generation Sequencing – Metabolic diseases associated genes variation test (LSD, NCL, channopathy)   30,000
000X0243次世代定序神經肌肉疾病相關基因變異檢測Next Generation Sequencing – Neuromuscular diseases associated genes variation test (LGMD, CMT, FAOD)   30,000
000X0247次世代定序兒童心臟相關基因變異檢測Next Generation Sequencing - Pediatric Cardiovascular disease (Channopathy, Cardiomyoapthy, Pulmonary hypertension)   30,000
12150B0D血漿胺基酸定量檢查Plasma Amino Acid Analysis    2,600
12194B00代謝產物串聯質譜儀檢查(陽性追蹤使用)Tandem Mass Analysis of Metabolites      650
000X0153嚴重複合型免疫缺乏症SCID Newborn Screening      150
000X0157生物素症新生兒篩檢Neonatal Screening of Biotinidase Disease      100
000X0158高雪氏症、黏多醣第一型、典型法布瑞氏症三項新生兒篩檢Screening for Gaucher,MPS Ι and Fabry Diseases      400
000X0175腎上腺腦白質失養症(ALD)篩檢Screening for Adrenoleukodystrophy      240
000X0176晚發型龐貝氏症篩檢(限1歲以上使用)Screening for late-onset Pompe disease (>1 years old )      800
000X0177(限男性)法布瑞氏症篩檢(限7歲以上使用)(Male) Screening for Fabry disease (>7 years old)      800
000X0178尿中葡萄糖四醣檢驗Urine Glc4 test    2,000
000X0179Lyso-Gb3檢驗 (法布瑞氏症追蹤和帶因者檢查)Lyso-Gb3 test (follow-up and carrier of Fabry disease)    1,200
000X0180氧化膽固醇檢驗 (尼曼匹克症排除和追蹤)Oxysterol test (R/O and follow-up of Niemann-Pick disease)    2,000
000X0183高雪氏症篩檢(限1歲以上使用)Screening for Gaucher disease
(>1 years old )
      800
000X0214龐貝氏症篩檢Screening for Pompe Disease      200
000X0215甲基丙二酸Methylmalonic Acid      400
000X0219琥珀醯丙酮Succinylacetone      500
09089B0D尿液有機酸檢查(每次需加CRE-09015C予校正)Urine Organic Acid analysis    2,340
000D1113生物素酵素缺乏症全基因分析Biotinidase Deficiency Genetic Assay    5,500
000X0218MSI分子基因檢查Microsatellite instability DNA analysis    5,000
000X0221甲狀腺髓質癌基因檢測(有家族史)Medullary Thyroid Cancer (MTC) Genetic Test(family history)    3,500
000X0222多發性內分泌腫瘤第二型基因檢測Multiple Endocrine Neoplasia,Type2(MEN2)Genetic Test    3,500
000X0223偽副甲狀腺功能低下症基因檢測Pseudohypoparathyroidism(PTH) Genetic Test    7,000
000X0224單一已知基因變異位點檢測Genetic Test of single known genetic variant    1,500
000X0227次世代定序疾病基因突變檢測Next-Generation Sequencing Genetic Test - Large Range   30,000
000X0228多發性內分泌腫瘤第一型基因檢測Multiple Endocrine Neoplasia,Type1(MEN1) Genetic Test    7,000
000X0229次世代定序結節硬化症基因突變檢測Next Generation Sequencing for Tuberous Sclerosis Complex associated Gene Mutation Test   30,000
000X0233次世代定序神經退化性疾病相關基因突變檢測Next Generation Sequencing for Neurodegenerative Diseases Associated Genes Mutation Test   30,000
000X0234次世代定序聽損基因突變檢測Next Generation Sequencing for Deafness Gene Mutation Test   30,000
000X0235甲狀腺髓質癌基因檢測(無家族史)Medullary Thyroid Cancer (MTC) Genetic Test (no family history)    6,000
000X0236次世代定序多囊性腎病變相關基因變異檢測Next Generation Sequencing for PKD Associated Genes Variation Test   30,000
000X0237次世代定序黃疸相關基因變異檢測Next Generation Sequencing for Jaundice Associated Genes Variation Test   30,000
000X0238全新設計已知基因變異單一位點檢測Brand New Designed Genetic Testing For An Untested Variant    2,840
000X0240全面性次世代定序與Sanger定序161個耳聾相關基因突變檢測Comprehensive Next Generation Sequencing and Sanger Sequencing for Deafness Associated Genes Mutation Test(161genes)   48,000
000X0244次世代定序疾病基因突變檢測—中範圍Next-Generation Sequencing Genetic Test - Middle Range   15,080
000X0245次世代定序疾病基因突變檢測—小範圍Next-Generation Sequencing Genetic Test - Small Range    7,060
000X0246次世代定序多發性內分泌腫瘤第一型基因檢測NGS for Multiple Endocrine Neoplasia, Type1 (MEN1) Genetic Test    7,060
000X0250次世代定序遺傳性癌症症候群基因檢驗NGS for Hereditary Cancer Syndromes associated Gene Variant Test   30,000