HumanKaryoMap-12 microarray

The HumanKaryomap-12 microarray is one of the six components of the infinium Human Karyomap-12 DNA Analysis Kit. This kit is a whole-genome single-cell level karyotyping that provides a genetic assessment of single-gene defects.
Karyomapping (karyotyping) uses biomarkers within the genome to assess the possibility that an embryo will carry genetic mutations that involve a single genetic disease. Karyotyping provides a comprehensive pre-implantation genetic diagnosis (PGD) for the detection of single gene defects by detecting one or several cells in the embryo.
PGD through karyotyping enables screening of embryos to understand the possibility of carrying defective genes before embryo implantation.
The microarray can be imaged not only on the IIIumina iScan system, but also on the NextSeq 550 system.
In the operation, Karyomapping karyotyping technology takes DNA samples from parents and children with diseases, uses microarray technology to compare with DNA samples from embryos, and then outlines how the genetic material DNA from the four grandparents is arranged This determines whether the embryo inherits a chromosome that contains the wrong gene.
For people
• Couples with or carrying a genetic disease
• Couples with a family genetic history
• Couples who have had a child with a genetic disorder
• Children who have had severe hematological diseases and need a second child for sibling hematopoietic stem cell transplantation
• Couples with a hereditary tumor or a family history of hereditary tumors
Detection significance
• Select normal embryos for transplantation to block the transmission of monogenic disease, chromosomal imbalance, and hereditary tumors.
• Select an embryo transfer that matches the child's HLA and treat the child with a second-born sibling hematopoietic stem or bone marrow stem cell transplant.
Technical advantages
• Avoid misdiagnosis and missed diagnosis caused by allele tripping of traditional PCR technology
• Diagnosis of any single-gene genetic disease with a well-defined pathogenicity
• One test, PGT at the same time, to achieve the detection of embryo aneuploidy, polyploidy, and single parent diploidy