The human exome constitutes about 2% of the genome which encodes proteins for life function. We know most of the disease causing genetic mutations are located in the exome.
Fetal Exome
iGene® Non-Invasive Prenatal Test (NIPT) that analyses cell-free fetal DNA (cffDNA) present in maternal blood. This DNA comes from the placenta and circulates freely in the maternal bloodstream.
Test Introduction
What Fetal Exome covers
Benefits from this test:
- High coverage of most exome – Based on genome sequencing and analysis of the exome, covering nearly the entire protein coding region of the genome.
- Analyzing all annotated gene – Analysis of the coding regions of more than 20,000 annotated genes for pathogenic or likely pathogenic variants related to patients’ clinical phenotype(s).
- Enhancing the detection scope – One-stop detection of single nucleotide variants (SNVs), small insertions and deletions (InDels) and genome-wide absence of heterozygosity at 5 Mb.
- Flexibility to know more – Opt in to know your carrier status for autosomal recessive conditions and risk for medically actionable diseases.
- Quick and responsive service – From sample collection to report issuing: 14 calendar days for trio; 28 calendar days for proband only. Sample types: amniotic fluid, blood, tissue, saliva and DNA.
Patient Story
A Patient’s Journey: Invasive vs. Non-Invasive Testing
When Emily found out she was pregnant, joy quickly turned to worry. Her family history of genetic conditions made her pregnancy high-risk. She had initially heard about invasive testing, which involved needles and carried a risk of miscarriage. The thought of it filled Emily with dread and anxiety. Then, she learned about non-invasive prenatal testing (NIPT). A simple blood draw from her arm, no risk to her baby, and accurate results. Choosing NIPT allowed Emily to feel at ease, knowing she could monitor her baby’s health without the fear and stress of invasive procedures. When her results came back normal, the relief was immense, allowing her to enjoy her pregnancy with peace of mind.
Other Information
Fetal DNA Chip (version 2.0)
This test is suiable for fetuses with:
- Isolated anomaly or multiple organ anomalies
- Suspected monogenic disorder
- Atypical presentation of disease or multiple dierential
diagnoses - Undiagnosed cases which have exhausted genetic
testing options
Best done as trio, where fetal and both parental samples
are timely sequenced and analyzed together.
Limitations:
- Certain mutations can be missed due to the
presence of pseudogenes, repetitive sequences
and repeat expansions. - FetalExome is not intended to detect structural
variants, copy number variants, variants in
mitochondrial DNA, methylation abnormalities,
dynamic variants, mosaic/somatic variants.