Genome Wide (Autosomes and autosomes chromosomal rearrangements > 7Mb)

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Eurofins Biomnis code

GENW

Synonyms
  • cfDNA
  • DPNI
  • Ninalia
  • NIPT
Specialty

Genetics

Clinical significance

Genome-wide test uses Illumina Veriseq NIPT Solution v2 technology. Noninvasive prenatal testing (NIPT) based on cell-free DNA analysis from maternal blood is a screening test; it is not diagnostic. Test results must not be used as the sole basis for diagnosis. Further confirmatory testing is necessary prior to making any irreversible pregnancy decision. Patients who receive an Aneuploidy Detected result should be offered a follow-up discussion of results and options of invasive testing (CVS or amniocentesis) for confirmation. NIPT detects trisomies 21, 18, and 13 in both singleton and twin pregnancies. - Trisomy 21: Sensitivity >99,9%; Specifity 99,90% - Trisomy 18: Sensitivity >99,9%; Specifity 99,90% - Trisomy 13: Sensitivity >99,9%; Specifity 99,90% - Rare autosomal aneuploidy (RAA) : Sensitivity 96,4%; Specifity 99,80% - Partial deletions and duplications : Sensitivity 74,1%; Specifity 99,80% Performance in Twin Pregnancies: - Trisomy 21: Sensitivity 96,4%; Specifity 99,9% - Trisomy 18: Sensitivity 95,7%; Specifity >99,9% - Trisomy 13: Sensitivity 93,6%; Specifity >99,9%Due to even lower prevalence, data for higher-order pregnancies (triplets or higher) were insufficient to establish appropriate statistical models to estimate accuracy of aneuploidy detection.

Preanalytics
  • A tube specifically for this analysis : No
Further information

Enclose the specific B39-INTGB request form : DPNI
Sample must be forwarded to Eurofins Biomnis within 5 days maximum
Straight away after blood draw, mix blood by gentle inversion (10 times minimum)
ALWAYS attach the specific information form, the 1st trimester ultrasound report, the consent form dated and signed by the clinician and the patient.

Documents to download
Methodology

New generation sequencing

Turnaround time

5 business days (Monday to Friday upon receipt at Eurofins Biomnis)

Testing Laboratory

Contact(s)
Customer Care