Chromosomal Microarray:
The SNP microarray analysis utilized the Cytoscan HD platform,
incorporating over 743,000 SNP probes and 1,953,000 NPCN probes, with a
median spacing of 0.88 kb. Genomic DNA from the provided sample type
underwent extraction and digestion with NSP1, followed by ligation to
NSP1 adaptors. PCR products were subsequently purified and quantified.
The purified DNA was fragmented, biotin-labeled, and then hybridized to
the Cytoscan HD GeneChip. Data analysis was conducted using the
Chromosome Analysis Suite, referencing the GRCh37/hg19 assembly. The
test’s development and performance characteristics were established by
LabCorp. Microarray analyses were conducted for both the subject and
their parents.