• Test Code: N126

Test Description

i-screeen test (Newborn Genome Screening) is a comprehensive genetic test performed shortly after birth to evaluate a baby’s DNA for potential genetic disorders. It involves analyzing the entire genome, and providing valuable information about your baby’s risk for various inherited conditions. i-Screen can help identify conditions that may not be apparent at birth, allowing for early intervention and personalized medical management. By detecting genetic disorders early, parents can make informed decisions about your child’s healthcare and potentially improve long-term outcomes.

i-screen uses NGS method to screen 23 pairs of chromosomes and provide test results on 90 diseases including autism, mental retardation, developmental disorder etc. Deletion or duplications of parts of the chromosome may cause severe abnormalities. Such chromosomal diseases are mostly without a complete treatment but early detection and appropriate treatment may help manage symptoms more efficiently.

Ordering information

  • Turnaround time: 10 calendar Days
  • Specimen: EDTA WB 0.5ml, Blood paper
Specimen requirements
Test Requisition Form

Assay information

  • Method: NGS (Next Generation Sequencing)
  • Resolution: Deletion : 400< / Gain 400kb<

Result

The test results will be provided according to the designated TAT. Review the sample report to see how the results are structured.

Sample report

Limitations

  • This test is a screening test for rare diseases associated with developmental disorder such as Down syndrome, Edwards syndrome, and Patau syndrome. If the result is positive, confirmatory tests such as karyotype analysis, FISH, microarray, etc. ,are needed for accurate diagnostics
  • Genetic variants(balanced trans location, inversion, point mutation, low-level mosaicism, etc.)other than chromosomal deletion/duplication are not detected.
  • It is difficult to rule out the possibility that the disease was caused by chromosomal abnormalities that could not be detected by this test
  • Chromosomal deletion/duplication that has unclear clinical significance in medical level at the point of reporting is not reported.
  • This test is conducted with the consent of the patient and does not directly aim at the treatment of disease or injury.

Verifying more specific details about the Test

Link to Product