Granted Patent B2

US 12,747,476 · App. 17/748,316 · Granted Sep 29, 2026

Inventors: Mark Umbarger (Brookline, MA); Eric D. Boyden (Cambridge, MA)

Assignee: Molecular Loop Corporation

C12Q1/6883C12Q1/6816C12Q1/6869C12Q2600/156

Abstract

Claims (15)

1 . A method for determining carrier status of an autosomal recessive disease, the method comprising the steps of:

capturing, using molecular inversion probes, nucleic acid corresponding to a first locus that is linked to a second locus, wherein the second locus is diagnostic for an autosomal recessive disease;

sequencing said captured nucleic acid;

measuring a copy number of the first locus;

inferring a copy number of the second locus based on the copy number of the first locus; and

determining disease status based upon the inferred copy number of the second locus.

2 . The method of claim 1 , wherein said autosomal recessive disease is spinal muscular atrophy.

3 . The method of claim 2 , wherein the first genomic locus is on intron 7 of an SMN1 or SMN2 gene or both.

4 . The method of claim 3 , wherein the second genomic locus is on exon 7 of an SMN1 gene.

5 . The method of claim 4 , wherein the first genomic locus is selected from rs212214 and rs212213.

6 . The method of claim 1 , wherein said sequencing step comprises a Sanger sequencing method or a next-generation sequencing method.

7 . The method of claim 1 , wherein said capturing step comprises isolating said nucleic acid from a sample comprising nucleic acid from a subject.

8 . The method of claim 7 , wherein said sample is a maternal blood sample.

9 . The method of claim 8 , wherein said maternal blood sample comprises cell free circulating nucleic acid.

10 . The method of claim 9 , wherein at least a portion of the cell free circulating nucleic acid is from a fetus being carried within the subject.

Assignments (5)

Continuity (3)

References Cited (400)