Prenatal exome

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Eurofins Biomnis code

EXOPN

Synonyms
  • CNV
  • DNA CHIP
  • Exome
  • Exons and flanking intronic regions
  • Panel
  • PRENATAL
  • SEQUENCING
  • SNV
  • WHOLE EXOME SEQUENCING
Specialty

Genetics

Clinical significance

[To be translated]

Preanalytics
  • Fresh or cultivated amniotic fluid, fresh or cultivated chorionic villi, miscarriage product.
  • A tube specifically for this analysis : No
Further information

According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
Trio whole exome sequencing assay requires an EDTA whole blood sample for each parent (mother and father)
If the sample is transported at room temperature, the sample must reached our facility within 4 days. in case of longer transport time, please send the sample in refregirated condition.
Please inform us when an urgent or prenatal exome is expected.
Please see the specific form N34- Whole exome sequencing
Please attach the specific request form B34-INTGB Exome analysis
For prenatal tests:
Please ensure to attached a maternal EDTA whole blood sample to each prenatal exome sample request (screening for maternal contamination)
Also attach the certificate of information and consent of the pregnant woman D44 as well as the specific request form for antenatal diagnosis B3

Specific equipment available
  • K34 : Kit Exome
Documents to download
Methodology

Lib Twist, Seq Illumina 2x150 Novaseq 6000. Perf: # 98% at 30x on Refseq + 2 pb, sensibility > 99% (perf checked on GiaB, on refseq target +/-20 pb with >15 Mo pairs reads, and 95% covereged > 10X ). Exome with accreditation ISO1589, CE-IVD pipeline, data on secured HPD server.

Turnaround time

4 weeks for the interpreted exome excluding confirmatory analyses and 2 weeks to make the data available in seqone for the exome with interpretation interface

Testing Laboratory

Contact(s)
Customer Care