Genome Wide complet (Autosomes and autosomes chromosomal rearrrangements > 7 Mb + fetal gender and sex chromosomes aneuploïdies)

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Eurofins Biomnis code

GENWC

Synonyms
  • cfDNA
  • DPNI
  • Ninalia
  • NIPT
Specialty

Genetics

Clinical significance

Genome-wide test uses Illumina Veriseq NIPT Solution v2 technology. See Genome-wide (without fetal sex detection and sex chromosome abnormalities) version for general test information Detecting sex chromosome abnormalities: - In singleton pregnancies, sex chromosome aneuploidies can also be detected. Sex chromosome aneuploidies detected include 45,X, 47,XXX, 47,XXY, 47,XYY. - Fetal sex classification concordance: 100% XX ,100% XY ,90.5% XO, 100% XXX ,100% XXY ,91.7% XYY - In twin pregnancies, the presence or absence of Y is detected but sex chromosome aneuploidies cannot be detected. Performance in Twin Pregnancies: - Trisomy 21: Sensitivity 96,4% 2-sided 95% CI (86.4%, 98.9%); Specificity 99.9% 2-sided 95% CI (99.8%, >99.9%) - Trisomy 18: Sensitivity 95.7% 2-sided 95% CI (68.3%, 99.4%); Specificity >99.9% 2-sided 95% CI (99.9%, >99.9%) - Trisomy 13: Sensitivity 93.6% 2-sided 95% CI (64.1%, 98.9%); Specificity >99.9% 2-sided 95% CI (99.9%, >99.9%) - Presence of Y: Sensitivity >99.9% 2-sided 95% CI (99.9%, >99.9%); Specificity >99.9% 2-sided 95% CI (99.7%, >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

Biomnis Lyon

Contact(s)
Customer Care