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. 09, 2024

Filed:

Apr. 06, 2018
Applicant:

Sage Science, Inc., Beverly, MA (US);

Inventor:

T. Christian Boles, Bedford, MA (US);

Assignee:

SAGE SCIENCE, INC., Beverly, MA (US);

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
G01N 27/447 (2006.01); C12Q 1/6806 (2018.01); C12Q 1/686 (2018.01); G01N 27/453 (2006.01);
U.S. Cl.
CPC ...
G01N 27/4473 (2013.01); C12Q 1/6806 (2013.01); C12Q 1/686 (2013.01); G01N 27/44739 (2013.01); G01N 27/453 (2013.01);
Abstract

An electrophoresis cassette may include sample well(s), gel column(s) containing a separation gel, and elution modules arranged adjacent the gel column(s). A sample may be provided to the electrophoresis cassette and high-molecular weight (HMW) DNA may be isolated from the sample. Single-copy DNA sequences may be cleaved on both sides of a repeat region of the DNA sequences to produce a cleaved sample, which then may be fractionated using gel electrophoresis. DNA fractions may be isolated from consecutive sections of the separation gel and subjected to PCR assays to detect single-copy sequences within the DNA fraction, said single-copy sequence containing repeat expansion sequences. The subjected DNA fractions may be electroeluted into the plurality of elution modules. A size of DNA fractions having the repeat expansion sequences may be determined. It is also determined if that size is above a normal repeat size range.


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