Eurofins Biomnis code

EOETE

Synonyms

• ACD
• APC
• ATM
• BAP1
• BMPR1A
• BRCA1
• BRCA2
• Breasy
• Cancer
• CDH1
• CDKN2A
• CDKN2B
• CDK4
• CHEK2
• CNV
• Digestive
• DLST
• DNMT3A
• EGFR
• EGLN1
• EGLN2
• EPAS1
• EPCAM
• ERBB2
• Exome
• Exons and flanking intronic regions
• FH
• FLCN
• GOT2
• HNF1B
• HOXB13
• Lung
• LZTR1
• MAX
• MC1R
• MDH2
• MEN1
• MERTK
• MET
• MITF
• MLH1
• MSH2
• MSH6
• MUTYH
• NBN
• Neuro-endocrine
• NF1
• NF2
• Oncogenetics
• Ovaire
• PALB2
• Pancreas
• Panel
• PBRM1
• PMS2
• POLD1
• POLE
• POT1
• Predisposition
• PRKN
• Prostate
• PTCH1
• PTCH2
• PTEN
• RAD51B
• RAD51C
• RAD51D
• RET
• RTEL1
• SDHA
• SDHAF2
• SDHB
• SDHC
• SDHD
• SETD2
• Skin
• SLC25A11
• SMAD4
• SMARCB1
• SNV
• STK11
• STN1
• SUFU
• TERF2IP
• TERT
• TMEM127
• TP53
• TSC1
• TSC2
• Tumor
• VHL
• WT1

Specialty

Genetics

Clinical significance

Germline genetic diagnosis has become an important element for the care of patient with a suspected predisposition to cancer, to aim therapeutic, for follow up and for genetic counseling for relatives. Many genes involved in cancer predisposition have been highlighted past few years, and new genes will be probably found. The interest of the whole exome sequencing (WES) is that all the known genes involved in cancer predisposition are analyzed (under reserve of technical limitation), especially genes predisposing to breast, ovarian, prostate, digestive, pancreas, skin or kidney. WES make it also possible to look at candidate gene and will make it possible to reinterpret data later with the evolution of knowledge, because the genes already have been sequenced. This in silico genes panel include 75 genes associated with hereditary breast, ovarian, prostate, digestive tract, pancreas, skin, lung, kidney and neuro-endocrine cancer.ACD, APC, ATM, BAP1, BMPR1A, BRCA1, BRCA2, CDH1, CDK4, CDKN2A, CDKN2B, CHEK2, DLST, DNMT3A, EGFR, EGLN1, EGLN2, EPAS1, EPCAM, ERBB2, FH, FLCN, GOT2, HNF1B, HOXB13, LZTR1, MAX, MC1R, MDH2, MEN1, MERTK, MET, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PBRM1, PMS2, POLD1, POLE, POT1, PRKN, PTCH1, PTCH2, PTEN, RAD51B, RAD51C, RAD51D, RET, RTEL1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETD2, SLC25A11, SMAD4, SMARCB1, STK11, STN1, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1When a pathogenic variant is detected, targeted analysis by sanger sequencing or qPCR could be performed in our lab (for confirmation, family survey or prenatal diagnosis). Link : https://www.eurofins-biomnis.com/services/referentiel-des-examens/page/SEQCI/

Preanalytics

• 1 x 5 mL :
• 1 x 5 mL Whole blood EDTA (1 full tube) or 1 extracted DNA tube (minimum volume 50µL with a minimum quantity of 1µg)

• A tube specifically for this analysis : No

Further information

These tests should be prescribed during a dedicated consultation by an oncogeneticist, a genetic counsellor in conjunction with an oncogenetic team or a specialist doctor with oncogenetic skills.
According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
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.
In case of urgent collection, please inform us when sending.
Use the B67 application form

Documents to download

• Test request form Exome_oncogenetique ( B67 - INTGB)

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 panel - excluding confirmatory analysis