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)
克里斯汀·安德森，医学博士(ASCP)，北州主管 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)
克里斯汀·安德森，医学博士(ASCP)，北州主管 分子诊断
电话: 315 464-6806
电子邮件: (电子邮件保护)
The 分子诊断 Laboratory offers a growing menu of molecular testing for inherited diseases, 与遗传相关的危险因素复杂, 多因子的紊乱, 以及获得性血液病. The 导演 and Assistant 导演 are members of the American College of 医疗 Genetics and hold American Board of 医疗 Genetics Certificate of Qualification in Clinical Molecular Genetics. We are a referral laboratory for other hospitals and clinics throughout New York State.
实验室联系方式
实验室工作人员周一至周五从上午8点到下午6点
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学
841 E. 菲也特圣.
锡拉丘兹，纽约州13210
基因测试
全部展开囊性纤维化直接突变分析
| 测试包括: | 直接检测60个CF突变, including the 23 CF mutations recommended by the American College of 医疗 Genetics for routine CF screening. Approximately 90% of CF chromosomes found in CF patients in 推荐最近最火的赌博软件 New York will be detected. |
| 适应症: | 产前人群筛查以确定CF携带者 有症状个体CF的诊断 CF患者无症状家庭成员的携带者检测 CF家族史中CF突变的产前检测 |
| 样品要求: | 携带者或诊断:外周血- 5ml EDTA抗凝血. 产前:培养羊膜细胞2个T-25融合瓶. 母体细胞污染研究也需要母体血液样本. |
| 运输要求: | 室温运输. 外周血必须在48小时内采集. 培养的羊膜细胞必须通过隔夜快递运送. |
| 所需文件: | |
| 评论: | 完成申请时, 请包括患者的种族背景(CF的风险因种族而异), the relationship of the patient to any family members with a history of CF (include identity of CF mutations if known), 以及检测的目的(诊断或载体). |
| 周转时间: | 7 - 14天 |
| CPT编码: | 81220, 81224, 81221 |
因子V基因突变分析
| 测试包括: | R506Q (Factor V Leiden)点突变的直接分子检测. |
| 适应症: | Leiden因子是静脉血栓栓塞的遗传危险因素. |
| 样品要求: | 外周血- 5ml EDTA抗凝. |
| 运输要求: | 室温运输. 外周血必须在48小时内采集. |
| 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: | Direct molecular detection and methylation status of the CGG trinucleotide repeat region within the FMR1 gene on the X chromosome. |
| 适应症: | Expansions of the CGG repeat region within the FMR1 gene are associated with Fragile X syndrome, 卵巢早衰, and a late onset neurodegenerative disorder with cerebellar ataxia and intention tremor (FXTAS). |
| 样品要求: | 外周血- 5-10ml EDTA抗凝 Prenatal: Will only be performed when the mother is a confirmed premutation carrier. 需要四个T-25融合瓶培养羊膜细胞. |
| 运输要求: | 室温运输. 外周血必须在48小时内采集. |
| 所需文件: | |
| 评论: |
正常的CGG重复范围是6到44次. 灰色地带是45-54个CGG重复. 预突变扩展范围从55到200个重复. 女性先兆携带者有卵巢早衰的风险. 男性和女性突变前携带者都有患FXTAS的风险. Full mutation expansions are greater than 200 repeats and the DNA of the repeat region is methylated. |
| 周转时间: | 7 - 21天 |
| CPT编码: |
81243 |
遗传性血色素沉着症检测
| 测试包括: | HFE基因C282Y和H63D点突变的直接分子检测. |
| 适应症: | 分子检测有助于遗传性血色素沉着症的诊断 |
| 样品要求: | 外周血- 5ml EDTA抗凝. |
| 运输要求: | 室温运输. 外周血必须在48小时内采集. |
| 所需文件: | |
| 评论: | 当出现在两条染色体上时(纯合子), the C282Y mutation is strongly associated with an increased risk for Hemochromatosis. Individuals with one copy of C282Y and one copy of the H63D mutation are also at increased risk of Hemochromatosis. 然而, the penetrance of Hereditary Hemochromatosis in C282Y/H63D compound heterozygotes has been estimated to be only about 1% 携带一份C282Y基因副本的个人 没有 的H63D 五月 患血色素沉着症的风险会增加. 个体携带一个或两个H63D副本 但不携带C282Y突变 患血色素沉着症的风险可能不会增加. |
| 周转时间: | 7 - 14天 |
| CPT编码: |
81256 |
甲基四氢叶酸还原酶
| 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: | 外周血- 5ml EDTA抗凝. |
| 运输要求: | 室温运输. 外周血必须在48小时内采集. |
| 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: | 外周血- 5ml EDTA抗凝. |
| 运输要求: | 室温运输. 外周血必须在48小时内采集. |
| 所需文件: | |
| 周转时间: | 7 - 14天 |
| CPT编码: |
81240 |
血液肿瘤学测试可用
全部展开b细胞单克隆
| 测试包括: | b淋巴细胞单克隆群体的检测. |
| 适应症: | 结合免疫分型, this assay provides information to aid in the diagnosis and classification of lymphoid lymphoma and leukemia |
| 样品要求: | Peripheral Blood - minimum of 10 ml of EDTA anticoagulated blood (for patients with a relatively normal absolute lymphocyte count). 对于淋巴细胞绝对计数明显减少的患者, 在拿到样品前请给实验室打电话. 骨髓-至少1ml EDTA抗凝BM. 新鲜组织- 3-5mm代表性样本(立即放在冰上运送到实验室). 固定石蜡包埋组织-请发送块. |
| 运输要求: | Peripheral Blood and Bone marrow - 室温运输 for receipt in the lab within 24 hrs. 的集合. 〇新鲜纸巾 收集后2小时内用湿冰运输至实验室接收. |
| 所需文件: |
|
| 评论: | 克隆必须至少占样品的10%才能被检测到. 不接受除福尔马林以外的组织固定剂. When sending fixed tissue, please include a copy of the surgical report and a representative slide. |
| 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 |
克隆性(通过tcr - γ链靶点的重排)
| 测试包括: | Clonality detection in leukemia and lymphoma based on T-cell receptor gamma chain gene rearrangement. |
| 适应症: | 结合免疫分型, this assay provides information to aid in the diagnosis and classification of leukemia and lymphoma. 克隆检测并不局限于t淋巴细胞谱系的克隆 |
| 样品要求: | Peripheral Blood - minimum of 10 ml of EDTA anticoagulated blood (for patients with a relatively normal white blood count). 对于白细胞计数明显降低的患者, 在拿到样品前请给实验室打电话. 骨髓-至少1ml EDTA抗凝BM. 新鲜组织- 3-5mm代表性样本(立即放在冰上运送到实验室). 固定石蜡包埋组织-请发送块. |
| 运输要求: | Peripheral Blood and Bone marrow - 室温运输 for receipt in the lab within 24 hrs. 的集合. 〇新鲜纸巾 收集后2小时内用湿冰运输至实验室接收. |
| 所需文件: | |
| 评论: | 克隆必须至少占样品的10%才能被检测到. Rearrangement of the T-cell receptor gamma chain is a good marker for clonality but is not by itself indicative of T-lymphocyte lineage. Lineage of clones detected in this assay should be determined by morphology and cell surfacemarkers. 不接受除福尔马林以外的组织固定剂. When sending fixed tissue, please include a copy of the surgical report and a representative slide. |
| 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突变检测
| 测试包括: | 获得性JAK2突变V617F的直接分子检测. |
| 适应症: | The V617F mutation within the JAK2 gene is associated with the chronic myeloproliferative disorders polycythemia vera (PV), 原发性血小板增多症, and myelofibrosis with myeloid metaplasia (also called idiopathic myelofibrosis - IM). 结合阴性BCR/ABL1易位结果, V617F testing is useful for distinguishing these chronic myeloproliferative disorders from a reactive process. |
| 样品要求: | 外周血- 4毫升EDTA抗凝血. 骨髓-至少1ml EDTA抗凝BM. |
| 运输要求: | Peripheral Blood and Bone marrow - 室温运输 for receipt in the lab within 24 hrs. 的集合. |
| 所需文件: | |
| 评论: | V617F mutation must be present in at least 1% of the white blood cell fraction in order to be detected. |
| 周转时间: | 7 - 10天 |
| CPT编码: | 83891 x 1 83900 x 1 83894 x 1 83912 x 1 |
fms相关酪氨酸激酶3 (FLT3)
| 测试包括: | Direct molecular detection of internal tandem duplications or other nucleotide insertions within the juxtamembrane domain or the first intracellular tyrosine kinase domain of the FLT3 gene that results in an increase in the length of the FLT3 protein (referred to as FLT3 length mutations). Point mutations involving codon D835 or I836 in the activation loop of the protein are also detected (referred to as FLT3-TKD mutations). |
| 适应症: | FLT3 length mutations are found in about 25% of adult AML and 10-15% of pediatric AML cases, 并且与预后不良有关. FLT3-TKD突变的临床意义尚不清楚 |
| 样品要求: | 外周血- 4毫升EDTA抗凝血. 骨髓-至少1ml EDTA抗凝BM. |
| 运输要求: | Peripheral Blood and Bone marrow - 室温运输 for receipt in the lab within 24 hrs. 的集合. |
| 所需文件: | |
| 评论: | An FLT3 mutation must be present in at least 5% of the white blood cell fraction in order to be detected. |
| 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 |
BCR/ABL1 p210定量分析
| 测试包括: | Quantification of the BCR/ABL1 fusion gene mRNA transcript that directs production of the aberrant 210 kdal protein associated with development of chronic myelogenous leukemia. |
| 适应症: | Quantitative BCR/ABL1 p210 testing aids in the diagnosis of chronic myelogenous leukemia (CML) and assists in monitoring the presence of residual disease post treatment. |
| 样品要求: | 外周血- 6毫升EDTA抗凝血. |
| 运输要求: | 24小时内将样品在室温下运输至实验室接收. 的集合. |
| 所需文件: | |
| 评论: | Results are expressed as both a normalized percent ratio of BCR/ABL1 fusion gene transcripts to ABL1 control gene transcripts and as a percent on the International Scale. |
| 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 |