EnfantGuard™ - [Chromosome abnormality screening for infant developmental disorders]

Infant-targeted chromosome abnormality test using NGS technology

80 types of developmental disorderrelated diseases screened at once

Characteristics of EnfantGuard™

Interpretation of more than 3,400 parts of diseaserelated nucleotide sequence of the genomic region with NGS technology. 

Detection of the copy number variation (CNV), genotype frequencies, etc. through information analysis pipeline

Extraction of disease and mutation correlation through database of OMIM, Helpline, DECIPHER, GeneReviews, ClinvarCNV, etc.

Chromosome test, FISH, additional confirmation diagnosis and transfer support to general hospital (optional)

Main diseases screenable

Autosomal aneuploidy Down syndrome, Patau syndrome, Edward syndrome, etc.

Sex chromosome aneuploidy Turner’s syndrome, Klinefelter’s syndrome, XYY, etc

Chromosome microdeletion Di George syndrome, Dandy-Walker syndrome, Steroid sulfatase deficiency

Chromosome microduplication Cat eye syndrome, 15q12 duplication syndrome, 22q11.2 duplication syndrome