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.

Date of Patent:
Jan. 23, 2024

Filed:

Jul. 06, 2018
Applicant:

Nipd Genetics Public Company Limited, Nicosia, CY;

Inventors:

George Koumbaris, Lithrodontas, CY;

Marios Ioannides, Nicosia, CY;

Kyriakos Tsangaras, Limassol, CY;

Charalambos Loizides, Nicosia, CY;

Michalis Nicolaou, Nicosia, CY;

Skevi Kyriakou, Larnaca, CY;

Philippos Patsalis, Nicosia, CY;

Elena Kypri, Nico, CY;

Assignee:
Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12Q 1/6883 (2018.01); C12Q 1/6874 (2018.01);
U.S. Cl.
CPC ...
C12Q 1/6883 (2013.01); C12Q 1/6874 (2013.01); C12Q 2600/112 (2013.01); C12Q 2600/118 (2013.01);
Abstract

The invention provides methods for assessment of risk for genetic conditions using target-enriched multiplexed parallel analysis, for example fetal risk for genetic conditions in prenatal testing. The methods of the invention utilize Target Capture Sequences (TACS) to thereby enrich for target sequences of interest, followed by massive parallel sequencing and statistical analysis of the enriched population. The methods of the disclosure can be used to determine carrier status of inheritable genetic abnormalities associated with genetic conditions and from this information the fetal risk of inheriting the genetic condition can be determined. Kits for carrying out the methods of the invention are also provided.


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