桑格定序法(Sanger sequencing)是傳統上檢測突變的黃金準則，檢驗非常準確但較昂貴，且需時較久。現在已經走向精準醫學的時代，亦?根據個人疾病狀況，選擇最有效的診斷方法，以因應臨床多樣化的檢驗需求。本單位目前為衛生福利部國民健康署遺傳性及罕見疾病指定檢驗機構，並已取得TAF ISO15189醫學實驗室認證，以下為本單位常檢測的基因，若不在列表中也可以來電諮詢訂製或詢問價錢，電話02-28712121-8485：
| 疾病 | 基因 |
|---|---|
| Achondroplasia | FGFR3 |
| Adrenoleukodystrophy | ABCD1 |
| Alpha-One Antitrypsin Deficiency | SERPINA1 |
| Alport syndrome | COL4A5 |
| Aneurysms-Osteoarthritis Syndrome | SMAD3 |
| Apert syndrome | FGFR2 |
| Arginine偏高 | ARG1 |
| Aromatic L-amino acid decarboxylase deficiency | DDC |
| Azathioprine induced pancytopenia | NUDT15 |
| Biotinidase deficiency | BTD |
| C5OH | BTD |
| HLCS | |
| MCCC1 | |
| MCCC2 | |
| CAH | CYP21A2 |
| Carnitine Palmitoyl Transferase Deficiency Type I | CPT1A |
| Carnitine Palmitoyl Transferase Deficiency Type II | CPT2 |
| Carnitine Transporter Defect | OCTN2 |
| Cholesteryl ester storage disease | LIPA |
| CHT | DUOX2 |
| DUOXA2 | |
| GLIS3 | |
| IGSF1 | |
| SLC26A4 | |
| SLC5A5 | |
| TG | |
| THRB | |
| TPO | |
| TSHR | |
| Citrullinemia | ASL |
| ASS1 | |
| SLC25A13 | |
| Craniosynostosis | FGFR2 |
| Danon disease | Lamp2 |
| Dopa-responsive dystonia | GCH1 |
| SPR | |
| TH | |
| Duchenne Muscular Dystrophy | DMD |
| Dyskeratosis Congenita | TINF2 |
| Familial hypercholesterolemia | APOB |
| LDLR | |
| PCSK9 | |
| Fish Odor syndrome | FMO3 |
| G6PD Deficiency | G6PD |
| GA1 | CYP21A2 |
| GCDH | |
| Gaucher disease | GBA |
| Glutaric aciduria type II | ETFA |
| ETFB | |
| ETFDH | |
| Glycogen storage disease type I | G6PC |
| Hearing Loss | GJB2 |
| GJB3 | |
| SLC26A4 | |
| Hereditary diffuse leukoencephalopathy with spheroids | CSF1R |
| Hereditary pancreatitis | PRSS1 |
| Hyperhomocysteinemia | MTHFR |
| Hyperlipoproteinemia | APOC2 |
| Hypermethioninemia | MAT1A |
| Hypochondroplasia | FGFR3 |
| Hypospadias | AR |
| SRD5A2 | |
| Kallmann Syndrome | FGFR1 |
| PROKR2 | |
| Kenny-Caffey syndrome type 1 | TBCE |
| Lipoprotein Lipase Deficiency | LPL |
| Long QT syndrome | KCNH2 |
| KCNQ1 | |
| SCN5A | |
| Marfan Syndrome | FBN1 |
| TGFBR2 | |
| Mastocytosis | c-KIT |
| MCAD | ACADM |
| McCune Albright Syndrome | GNAS |
| Mitochondrial Disease | Mitochondrial DNA |
| MMA | MMACHC |
| MMUT | |
| MSUD | DBT |
| Mucopolysaccharidosis | ARSB |
| IDS | |
| IDUA | |
| Multiple Endocrine Neoplasia Syndromes | MEN1 |
| Neurofibromatosis | NF2 |
| Niemann-Pick Disease type A | SMPD1 |
| Niemann-Pick Disease type C | NPC1 |
| Noonan syndrome | BRAF |
| Optic Atrophy Type 1 | OPA1 |
| Ornithine transcarbamylase | OTC |
| Permanent neonatal diabetes mellitus | KCNJ11 |
| Persistent Hyperinsulinemic Hypoglycemia of Infancy | GLUD1 |
| Pompe disease | GAA |
| Porphyria, Acute Intermittent | HMBS |
| Precocious puberty | MKRN3 |
| Progressive Symmetric Erythrokeratodermia | GJB4 |
| Proteus syndrome | AKT1 |
| SCAD | ACADS |
| Tuberous Sclerosis Complex | TSC2 |
| Tyrosinemia | DDC |
| GCH1 | |
| SPR | |
| TH | |
| Very long chain acyl-CoA dehydrogenase deficiency | ACADVL |
| Von Hippel-Lindau disease | VHL |
| Wilson disease | ATP7B |
| Wolfram Syndrome | WFS1 |
| 丙酸血症 | PCCA |
| PCCB | |
| 半乳糖血症 | GALK1 |
| GALM | |
| GALT | |
| 豆固醇血症 | ABCG5 |
| ABCG8 | |
| 苯酮尿症 | GCH1 |
| PAH | |
| PCBD1 | |
| PTS | |
| QDPR | |
| 高胱胺酸尿症 | CBS |
| 異戊酸血症 | IVD |
| 異位性皮膚炎 | FLG |
| 新生兒呼吸中止症 | PHOX2B |
最後更新：