Patent ID: 11879157
Assignee: NIPD GENETICS PUBLIC COMPANY LIMITED
Field: Biotechnology (Chemistry)
Classification: CPC C | IPC C

Claim 0:
1. A method of determining status of a genetic condition or a fetal risk of inheriting a genetic condition, the method comprising:
(a) preparing a sequencing library from a sample comprising maternal and fetal DNA;
(b) hybridizing the sequencing library to a pool of single-stranded TArget Capture Sequences (TACS), wherein the pool of TACS comprises a plurality of sequences that bind to genomic sequences of interest including variant allele loci of interest associated with different genetic conditions;
(c) isolating members of the sequencing library that bind to the pool of TACS to obtain an enriched library;
(d) amplifying and sequencing the enriched library;
(e) performing statistical analysis on the enriched library sequences to thereby determine maternal carrier status at the loci of interest associated with different genetic conditions;
(f) selecting, after step (e), the sample comprising maternal and fetal DNA carrying a variant allele associated with an inheritable genetic condition;
(g) obtaining a paternal DNA sample and performing steps (a)-(e) on the paternal DNA sample to determine paternal carrier status;
(h) selecting, after step (g), the paternal DNA sample carrying a variant allele associated with an inheritable genetic condition in common with the sample comprising maternal and fetal DNA carrying the variant allele associated with the inheritable genetic condition; and
(i) determining fetal risk of inheriting a genetic condition based on maternal carrier status selected in step (f) and paternal carrier status selected in step (h).