3p- Syndrome: CNTN4.
|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.