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Clear
 
Test Code:
092-10-0007

Order Name:
NIPT plus microdeletion

 
Useful For:
Screening for chromosomal abnormalities including trisomy 13, trisomy 18, trisomy 21, sex chromosome aneuploidy (SCA), Genome-wide aneuploidy and 5 Microdeletions including; DiGeorge syndrome, 1p36 deletion syndrome, Angelman syndrome / Prader-Willi syndrome, Cri-du-Chat syndrome and Wolf-Hirschhorn syndrome. Sex determination is optional.
 
Methodology:
Next generation sequencing (NGS), Whole genome sequencing
 
AliasesName:
Non-invasive prenatal testing
Noninvasive prenatal screening
Prenatal screening
Microdeletion
 
 
 
Test Code:
092-10-0007

Order Name:
NIPT plus microdeletion

 
Patient Preparation:
Woman who has 10 weeks gestation pregnancy.
 
Collection Specimen Or Container:
Blood/ Streck 10 mL, 2 tubes
 
Specimen Testing Type:
Whole blood 10 mL Streck tube, 2 tubes
 
Sub Mission Container:
Streck tube
 
Specimen Stabillity:
Specimen Type Temperature Time
Whole blood Ambient temperature 7 days
 
 
 
Test Code:
092-10-0007

Order Name:
NIPT plus microdeletion

 
Method detail:
Next generation sequencing (NGS), Whole genome sequencing
 
Turnaround Time:
Reported within 14 days
 
Performing Location:
Research and Development Tel. 14252
 
Specimen Retention Time:
1 day
 
 
 
Test Code:
092-10-0007

Order Name:
NIPT plus microdeletion

 
 
Clinical Information:
Non-Invasive Prenatal Testing (NIPT) is a non-invasive test for pregnant women which estimates the risk of a fetus having chromosomal abnormalities. The non-invasive prenatal testing (NIPT) is an advanced screening test using next - generation sequencing technology that is carried out on a small maternal blood sample. During pregnancy, the placenta leaks cell-free DNA (deoxyribonucleic acid) which circulates in the maternal bloodstream. As a result, a maternal blood sample contains a mixture of fetal-placental and maternal circulating cell-free DNA. The non-invasive prenatal testing (NIPT) directly measures the amount of this cell-free DNA and can detect chromosomal abnormalities.
 
Reference Value:
Low risk
 
Interpretation:
Low risk: It is very unlikely your pregnancy is affected by chromosomal abnormalities such as trisomy 13, 18 or 21.
High risk: Your pregnancy is at increased risk for chromosomal abnormalities trisomy 13, 18 or 21 and the result should be confirmed by a follow-up invasive procedure such as amniocentesis.
 
Clinical Reference:
  1. Crea F, Forman M, Hulme R, Old R, W, Ryan D, Mazey R, Risley M, D, The IONA® Test: Development of an Automated Cell-Free DNA-Based Screening Test for Fetal Trisomies 13, 18, and 21 That Employs the Ion Proton Semiconductor Sequencing Platform. Fetal Diagn Ther 2017; 42:218-224
  2. https://www.yourgene-health.com/products/nipt/the-iona-test (Retrieved 30 Jan 2019)