The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Jun. 30, 2020
Filed:
Feb. 25, 2019
Applicant:
Athena Diagnostics, Inc., Marlborough, MA (US);
Inventors:
David A. Hill, Worcester, MA (US);
Matthew Evans, Shrewsbury, MA (US);
Corey D. Braastad, Southampton, MA (US);
Assignee:
ATHENA DIAGNOSTICS, INC., Marlborough, MA (US);
Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12P 19/34 (2006.01); C12Q 1/6881 (2018.01); C12Q 1/6883 (2018.01);
U.S. Cl.
CPC ...
C12Q 1/6881 (2013.01); C12Q 1/6883 (2013.01); C12Q 2600/156 (2013.01);
Abstract
Provided herein are methods and compositions for the detection of silent carriers of chromosomal deletion alleles in a human subject using haploid cells (e.g., sperm cells or egg cells) derived from the subject. The methods provided herein allow for the detection of silent (2+0) carriers of SMA, where the individual has a deletion of the SMN1 gene on one chromosome 5 homolog and two or more copies of the SMN1 gene on the other chromosome 5 homolog.