Prenatal
Whole-Exome Sequencing
Deep gene sequencing to find a suspected genetic cause.
Sequences the protein-coding genome to identify single-gene causes.
- Specimen
- EDTA blood (proband ± parental trio)
- Methodology
- Whole-exome sequencing (NGS)
- Category
- Prenatal
Pricing is available through your BioBloom portal or on request.
This test requires genetic counselling and written consent — your clinic will confirm this at ordering.
How it works
- 1
Order
Place the order through the BioBloom portal.
- 2
Sample
Collect the sample — EDTA blood (proband ± parental trio).
- 3
Analysis
Laboratory analysis — Whole-exome sequencing (NGS).
- 4
Report
Secure report delivered to your clinic through the portal.
What’s in the report
Reportable variant(s) with ACMG classification relevant to the clinical question.
Research & evidence
Well-established; prenatal exome maturingPrenatal
cfDNA/NIPT is a highly accurate screening test for the common trisomies. Microarray and QF-PCR are first-line diagnostics on invasive samples, with prenatal exome adding yield in selected cases.
Limitations: cfDNA/NIPT is a screening test, not a diagnosis: a high-risk result requires confirmatory invasive testing, and performance for microdeletions is more limited than for the common trisomies.
Read the researchMore in Prenatal
Secure Natal (NIPT)
Screens for trisomy 21, 18 and 13 from a maternal blood draw.
Fetal Karyotype
Full chromosome analysis of the baby.
Array-CGH (microarray)
Detects missing or extra chromosome pieces.
QF-PCR
Rapid check for the most common chromosome conditions.
