- 询价
- Intellectual Disability Copy Number PCR Array
- 上海
- 2026年01月21日
企业认证
相关产品推荐更多 >
万千商家帮你免费找货
0 人在求购买到急需产品
- 详细信息
- 文献和实验
- 技术资料
- 服务名称：
Intellectual Disability Copy Number PCR Array
- 提供商：
SAB
Human Intellectual Disability Copy Number PCR Array
|
||||||||||
| The Human Intellectual Disability qBiomarker Copy Number PCR Array profiles the copy number of 23 genes reported to undergo frequent genomic alterations in humans with intellectual disability. Many de novo genomic rearrangements, including copy number variations (CNV), have been identified in patients with intellectual disability. The genes on the array encode ion channels, cytoskeletal components, enzymes and transcription factors that regulate processes such as the cell cycle, cell adhesion, neurogenesis and differentiation, brain and central nervous system development, synaptic transmission, and nerve potential. Genes were chosen from the most frequently amplified or deleted genes relevant to impaired memory or cognitive function based on the primary literature and public databases. This array may serve as a useful tool to help classify samples by genotype and help verify phenotypic biomarkers. The array analyzes each gene in each sample in quadruplicate and includes a stable multi-copy reference assay for accurate copy number determination via appropriate DNA input normalization. The simplicity of the product format and operating procedure allow routine and reliable copy number profiling in any research laboratory with access to a real-time PCR instrument. The qBiomarker Copy Number PCR Arrays are intended for molecular biology applications. This product is not intended for the diagnosis, prevention, or treatment of a disease. 96-well Plate, 384-well (4 × 96) Plate, and 100-well Disc formats are available. |
||||||||||
Angelman Syndrome: MECP2, NIPA2.
Cornelia de Lange Syndrome 2: SMC1A.
Epileptic Encephalopathy, Early Infantile, 11 & Seizures, Benign Familial Infantile, 3: SCN2A, SCN3A.
Epileptic Encephalopathy, Early Infantile, 9: PCDH19.
Fragile X Syndrome: FMR1.
KBG Syndrome: ANKRD11, ZNF778.
Lissencephaly: PAFAH1B1, YWHAE.
Pitt-Hopkins-Like Syndrome 2: NRXN1.
Prader-Willi Syndrome: CYFIP1, GOLGA8E, NIPA2, WHAMMP3.
Rett Syndrome: FOXG1, MECP2.
Smith-Magenis Syndrome: RAI1.
X-Linked 17/31, Microduplication & X-Linked Syndromic: HSD17B10, HUWE1, MECP2, RIBC1.
X-Linked 58: TSPAN7.
Others: APBA2.
风险提示：丁香通仅作为第三方平台，为商家信息发布提供平台空间。用户咨询产品时请注意保护个人信息及财产安全，合理判断，谨慎选购商品，商家和用户对交易行为负责。对于医疗器械类产品，请先查证核实企业经营资质和医疗器械产品注册证情况。
文献和实验Structural Genomic Variation in Intellectual Disability
and interpretation of copy number variations in mental retardation, with a focus on diagnostic applications. In addition, a detailed protocol is provided for the diagnostic interpretation of copy-number variations in mental retardation.
Detection and Characterization of Copy Number Variation in Autism Spectrum Disorder
with the recognition of copy number variation (CNV) as a prevalent source of genomic variation, has led to new strategies in the identification of clinically relevant loci. Balanced genomic changes, such as translocations and inversions, also contribute to ASD
Parallel Analysis of Gene Copy Number and Expression Using cDNA Microarrays
as more highly expressed in the tumor sample. (B ) Measuring gene copy number with cDNA microarrays. In this array CGH technique, genomic DNA from two different samples (normal and tumor shown) were differentially fluorescently labeled and cohybridized to a cDNA
