Genoscreen
gives your kids
a healthy future.

Genoscreen ' s advanced NGS-based test screens infants for developmental & metabolic disorders by
sequencing over 6,000,000 chromosomal regions. It detects microdeletions or microduplications
related to 250 developmental disorders, enabling early intervention and promoting a healthier
future for the little ones.

advanced NGS

Advantage of GenoScreen

  • Interpretation of more than 6,000,000 parts of disease - related nucleotide sequence of the genomic region with NGS technology .
  • Detection of the copy number variation(CNV), genotypic frequencies, etc. through information analysis pipeline.
  • Extraction of disease and mutation corrlation through database of Genereview, ClinvarCNV,etc.,
  • Chromosome test, variant confirmation by sanger will be done free of cost.

Targets:


Autosomal aneuploidy
  - Down syndrome, Patau Syndrome, Edward Syndrome, etc. Sex chromosome aneuploidy.
  - Turner's syndrome, Klinefelter's syndrome, XXY etc. Chromosome microdeletion
  - Di George Syndrome, Dandy- Walker Syndrome, Steroid Sulfatase deficiency
Metabolic Disorders
  - Gaucher's disease, Fabray's syndrome, Pompe's disease, Hunter's syndrome
  - Lysosomal storage disease, Glycogen storage disease, Copper Metabolism abnormal disease etc.,

Test Details:

  • Specimen EDTA Blood 0.1 mL/Dried blood spot
  • TAT 21 Days
  • Test Method NGS

Contact Us

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