| Human Birth Defects Copy Number PCR Array |
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| The Human Birth Defects qBiomarker Copy Number PCR Array profiles the copy number of 23 genes reported to undergo frequent genomic alterations associated with human birth defects. Many de novo gene copy number variations contribute to congenital abnormalities. The genes on the array encode transcription factors, cell surface molecules, enzymes, cytoskeleton components and regulators, and intracellular signaling molecules that regulate processes such as embryonic development and organ morphogenesis. Genes were chosen from the most frequently amplified or deleted genes relevant to human developmental biology based on the primary literature and public databases. This array may serve as a useful tool to help classify human birth defects 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 |
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ANKRD11: KBG Syndrome.
CD320: Methylmalonic Aciduria due to Transcobalamin Receptor Defect.
CHD7: CHARGE Syndrome.
CYP21A2: Adrenal Hyperplasia, Congenital.
FOXC2: Lymphedema-Distichiasis Syndrome.
FOXF1: Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
FOXG1: Rett Syndrome.
FOXL2: Blepharophimosis, Epicanthus Inversus, and Ptosis, Types 1 & 2; Premature Ovarian Failure 3.
GALNT11: Congenital Heart Disease with Heterotaxy.
GATA4: Several Congenital Heart Defects.
HNF1B: Diabetes Mellitus, Noninsulin-Dependent; Renal Cysts and Diabetes Syndrome.
IHH: Acrocapitofemoral Dysplasia; Brachydactyly, Type A1.
NEK2: Heterotaxy.
NUP188: Heterotaxy.
PAX2: Optic Nerve Coloboma with Renal Disease; Renal Hypoplasia, Isolated |
