分子诊断
Steven Sperber, MS, PhD, FACMG, 医疗 导演
电话: 315 464-8459
电子邮件: (电子邮件保护)
斯科特·C. 史密斯博士，FACMG; 分类. 导演
电子邮件: (电子邮件保护)
Kristen Anderson, MT(ASCP), Supervisor 推荐最近最火的赌博软件 分子诊断
电话: 315 464-6806
电子邮件: (电子邮件保护)
电话: 315 464-8459
电子邮件: (电子邮件保护)
斯科特·C. 史密斯博士，FACMG; 分类. 导演
电子邮件: (电子邮件保护)
Kristen Anderson, MT(ASCP), Supervisor 推荐最近最火的赌博软件 分子诊断
电话: 315 464-6806
电子邮件: (电子邮件保护)
分子诊断实验室为遗传疾病提供了越来越多的分子检测, genetic risk factors associated with complex, 多因子的紊乱, and acquired hematological disorders. 主任和助理主任是美国医学遗传学学院的成员，并持有美国医学遗传学委员会临床分子遗传学资格证书. 我们是纽约州其他医院和诊所的转诊实验室.
Laboratory 联系 Information
The laboratory is staffed Monday - Friday from 8:00AM - 6:00PM
电话:315-464-6806
传真:315-464-6827
标本寄送地址
推荐最近最火的赌博软件 分子诊断
841 E. 菲也特圣.
锡拉丘兹，纽约州13210
基因测试
全部展开Cystic Fibrosis Direct Mutation Analysis
| 测试包括: | Direct detection of 60 CF mutations, 包括美国医学遗传学学院推荐的用于常规CF筛查的23种CF突变. 在纽约州推荐最近最火的赌博软件的CF患者中，大约90%的CF染色体将被检测到. |
| 适应症: | Prenatal Population screening to identify CF carriers Diagnosis of CF in symptomatic individuals Carrier detection in asymptomatic family members of CF patients Prenatal detection of CF mutations in families with a history of CF |
| 样品要求: | Carrier or Diagnostic: Peripheral Blood - 5 ml EDTA anticoagulated. Prenatal: 2 confluent T-25 flasks of cultured amniocytes. A maternal blood sample is also required for maternal cell contamination studies. |
| 运输要求: | Transport at room temperature. Peripheral blood must be received within 48 hours 的集合. Cultured amniocytes must be shipped via overnight courier. |
| 所需文件: | |
| 评论: | When completing the requisition, please include patient's racial background (risk of CF varies with race), 患者与任何有CF病史的家庭成员的关系(如果已知，包括CF突变的身份), and the purpose (diagnostic or carrier) for testing. |
| 周转时间: | 7 - 14天 |
| CPT编码: | 81220, 81224, 81221 |
Factor V Gene Mutation Analysis
| 测试包括: | Direct molecular detection of the R506Q (Factor V Leiden) point mutation. |
| 适应症: | Factor V Leiden is a genetic risk factor for venous thromboembolism. |
| 样品要求: | Peripheral Blood - 5ml EDTA anticoagulated. |
| 运输要求: | Transport at room temperature. Peripheral blood must be received within 48 hours 的集合. |
| 所需文件: | |
| 周转时间: | 7 - 10天 |
| CPT编码: | 81241 |
脆性X射线检测
| 测试包括: | X染色体FMR1基因内CGG三核苷酸重复区直接分子检测及甲基化状态. |
| 适应症: | FMR1基因内CGG重复区域的扩增与脆性X综合征有关, 卵巢早衰, 以及伴小脑性共济失调和意向性震颤的晚发性神经退行性疾病(FXTAS). |
| 样品要求: | Peripheral Blood - 5-10ml EDTA anticoagulated 产前检查:只有当母亲确认为突变前携带者时才会进行检查. Requires four T-25 confluent flasks of cultured amniocytes. |
| 运输要求: | Transport at room temperature. Peripheral blood must be received within 48 hours 的集合. |
| 所需文件: | |
| 评论: |
Normal CGG repeat range is 6 to 44 repeats. Grey zone is 45-54 CGG repeats. Premutation expansions range from 55 to 200 repeats. Female Premutation carriers are at risk for 卵巢早衰. Male and female premutation carriers are at risk for FXTAS. 完全突变扩增大于200个重复，重复区域的DNA被甲基化. |
| 周转时间: | 7 - 21天 |
| CPT编码: |
81243 |
Hereditary Hemochromatosis Detection
| 测试包括: | Direct molecular detection of the C282Y and H63D point mutations of the HFE gene. |
| 适应症: | Molecular testing is an aid in the diagnosis of Hereditary Hemochromatosis |
| 样品要求: | Peripheral Blood - 5ml EDTA anticoagulated. |
| 运输要求: | Transport at room temperature. Peripheral blood must be received within 48 hours 的集合. |
| 所需文件: | |
| 评论: | When present on both chromosomes (homozygous), C282Y突变与血色素沉着症的风险增加密切相关. 一个拷贝C282Y和一个拷贝H63D突变的个体患血色素沉着病的风险也增加. 然而, 遗传性血色素病在C282Y/H63D复合杂合子中的外显率估计仅为1%左右 Individuals with one copy of C282Y in the 没有 的H63D 五月 be at increased risk for Hemochromatosis. Individuals with one or two copies 的H63D but not carrying the C282Y mutation are most likely not at increased risk for Hemochromatosis. |
| 周转时间: | 7 - 14天 |
| CPT编码: |
81256 |
MTHFR (Methyltetrahydrofolate reductase)
| 测试包括: | Direct molecular detection of the point mutation 677C>T in the MTHFR gene. |
| 适应症: | The 677C>T mutation in the MTHFR gene has been reported to be associated with hyperhomocysteinemia. |
| 样品要求: | Peripheral Blood - 5 ml EDTA anticoagulated. |
| 运输要求: | Transport at room temperature. Peripheral blood must be received within 48 hours 的集合. |
| 所需文件: | |
| 周转时间: | 7 - 14天 |
| CPT编码: |
81291 |
凝血酶原20210
| 测试包括: | Direct molecular detection of the point mutation 20210G>A in the Prothrombin gene. |
| 适应症: | 凝血酶原20210G>A is a genetic risk factor for venous thromboembolism. |
| 样品要求: | Peripheral Blood - 5 ml EDTA anticoagulated. |
| 运输要求: | Transport at room temperature. Peripheral blood must be received within 48 hours 的集合. |
| 所需文件: | |
| 周转时间: | 7 - 14天 |
| CPT编码: |
81240 |
Hematology Oncology Tests Available
全部展开b细胞单克隆
| 测试包括: | Detection of monoclonal population of B-lymphocytes. |
| 适应症: | In conjunction with immunophenotyping, 该化验提供的信息，以帮助诊断和分类淋巴样淋巴瘤和白血病 |
| 样品要求: | 外周血-至少10ml EDTA抗凝血(对于淋巴细胞绝对计数相对正常的患者). For patients with significantly reduced absolute lymphocyte counts, please call the lab before obtaining the sample. Bone marrow - minimum of 1 ml of EDTA anticoagulated BM. Fresh Tissue - 3-5mm representative sample (immediately place on ice and transport to the lab). Fixed paraffin embedded tissue - please send block. |
| 运输要求: | 外周血和骨髓-室温下24小时内运输至实验室接受. 的集合. 〇新鲜纸巾 transport on wet ice for receipt in the lab within 2 hours 的集合. |
| 所需文件: | |
| 评论: | Clone must constitute at least 10% of the sample in order to be detected. Tissue fixatives other than formalin are not accepted. 寄送固定组织时，请附上一份手术报告和一张代表性幻灯片. |
| 周转时间: | 3 - 5天 |
| CPT编码: | 83891 x 1 83900 x 1 83901 x 3 83894 x 1 83912 x 1 |
Clonality (via rearrangement of the TCR-gamma chain target)
| 测试包括: | 基于t细胞受体γ链基因重排的白血病和淋巴瘤克隆检测. |
| 适应症: | In conjunction with immunophenotyping, 该化验提供的信息，以帮助白血病和淋巴瘤的诊断和分类. Detection of clonality is not restricted to clones of T-lymphocyte lineage |
| 样品要求: | 外周血-至少10ml EDTA抗凝血(白细胞计数相对正常的患者). For patients with significantly reduced white blood counts, please call the lab before obtaining the sample. Bone marrow - minimum of 1 ml of EDTA anticoagulated BM. Fresh Tissue - 3-5mm representative sample (immediately place on ice and transport to the lab). Fixed paraffin embedded tissue - please send block. |
| 运输要求: | 外周血和骨髓-室温下24小时内运输至实验室接受. 的集合. 〇新鲜纸巾 transport on wet ice for receipt in the lab within 2 hours 的集合. |
| 所需文件: | |
| 评论: | Clone must constitute at least 10% of the sample in order to be detected. t细胞受体γ链的重排是克隆性的一个很好的标记，但它本身并不是t淋巴细胞谱系的指示. 在这个实验中检测到的克隆谱系应该通过形态学和细胞表面标记来确定. Tissue fixatives other than formalin are not accepted. 寄送固定组织时，请附上一份手术报告和一张代表性幻灯片. |
| 周转时间: | 3 - 5天 |
| CPT编码: | 83891 x 1 83900 x 1 83901 x 1 83898 x 1 83894 x 1 83912 x 1 |
JAK2 (Janus Kinase 2) V617F Mutation Detection
| 测试包括: | Direct molecular detection of an acquired JAK2 mutation, V617F. |
| 适应症: | JAK2基因内的V617F突变与慢性骨髓增殖性疾病真性红细胞增多症(PV)有关。, essential thrombocythemia (ET), 骨髓化生伴骨髓纤维化(也称为特发性骨髓纤维化- IM). In conjunction with a negative BCR/ABL1 translocation result, V617F检测有助于区分这些慢性骨髓增生性疾病和反应性疾病. |
| 样品要求: | Peripheral Blood - 4 ml of EDTA anticoagulated blood. Bone marrow - minimum of 1 ml of EDTA anticoagulated BM. |
| 运输要求: | 外周血和骨髓-室温下24小时内运输至实验室接受. 的集合. |
| 所需文件: | |
| 评论: | V617F突变必须存在于至少1%的白细胞中才能被检测到. |
| 周转时间: | 7 - 10天 |
| CPT编码: | 83891 x 1 83900 x 1 83894 x 1 83912 x 1 |
FLT3 (FMS-related Tyrosine Kinase 3)
| 测试包括: | 直接分子检测FLT3基因近膜结构域或细胞内第一酪氨酸激酶结构域内的内部串联重复或其他核苷酸插入，导致FLT3蛋白长度增加(称为FLT3长度突变). 还可以检测到蛋白激活环中涉及密码子D835或I836的点突变(称为FLT3-TKD突变)。. |
| 适应症: | 在大约25%的成人AML和10-15%的儿科AML病例中发现FLT3长度突变, and are associated with a poor prognosis. The clinical significance of FLT3-TKD mutations is less clear |
| 样品要求: | Peripheral Blood - 4 ml of EDTA anticoagulated blood. Bone marrow - minimum of 1 ml of EDTA anticoagulated BM. |
| 运输要求: | 外周血和骨髓-室温下24小时内运输至实验室接受. 的集合. |
| 所需文件: | |
| 评论: | FLT3突变必须存在于至少5%的白细胞中才能被检测到. |
| 周转时间: | 2 - 4天 |
| CPT编码: | 83891 x 1 83892 x 1 83894 x 3 83898 x 3 83912 x 1 |
Quantitative BCR/ABL1 p210 Analysis
| 测试包括: | BCR/ABL1融合基因mRNA转录物的量化，该转录物可指导与慢性髓性白血病发展相关的异常210 kdal蛋白的产生. |
| 适应症: | 定量BCR/ABL1 p210检测有助于慢性髓性白血病(CML)的诊断，并有助于监测治疗后残留疾病的存在. |
| 样品要求: | Peripheral Blood - 6 ml of EDTA anticoagulated blood. |
| 运输要求: | Transport sample at room temperature for receipt in the lab within 24 hrs. 的集合. |
| 所需文件: | |
| 评论: | 结果表示为BCR/ABL1融合基因转录物与ABL1对照基因转录物的归一化百分比比率，以及国际标准的百分比. |
| 周转时间: | 4 - 7天 |
| CPT编码: | 83902 x 1 83891 x 1 83896 x 2 83013 x 1 83898 x 2 83912 x 1 |