Abstract

Provided are compositions and methods for assessing the genetic makeup of sperm comprising use of Digital Droplet PCR, wherein optionally the genetic makeup of the sperm is screened for the presence of a genetic defect or trait, or the genetic makeup of the sperm is screened for a de novo genetic mutation. Provided are compositions, including products of manufacture and kits, and methods, for determining the risk of inheritance of a genetic defect or trait in a younger child or a potential sibling, wherein the younger child or potential sibling has an older sibling having the genetic defect or trait. Provided are compositions and methods for determining a man or woman's risk of having a child with a genetic defect or a disease caused by a genetic defect or a trait such as autism, schizophrenia, heart disease, congenital heart disease or a neurocutaneous disease.


Claims
Download PDF
Document Preview
Document History
  • Publication: Oct 4, 2018
  • Application: Mar 28, 2018
    WO US 2018/0024878 W
  • Priority: May 30, 2017
    US US 201762512368 P
  • Priority: Mar 28, 2017
    US US 201762478005 P

Download Citation


Sign in to the Lens

Feedback