Eurofins Biomnis code

EXOC

Synonyms

• Brugata syndrome
• Canalopathy
• Cardiac arrythmia
• Dilated heart disease
• Exons and flanking intronic regions
• Hypertrophic heart disease
• KCNH2
• KCNQ1
• Long QT Syndrome
• MYBPC3
• MYH7
• Panel
• SCN5A
• SNV
• Sudden death
• TTN

Specialty

Genetics

Clinical significance

[To be translated]

Preanalytics

• 1 x 5 mL (Sang total EDTA) :
• EDTA whole blood (tube completely filled). 1 extracted DNA tube (minimum volume 50µL with a minimum quantity of 1µg/500ng for the prenatal)
•   Ambient temperature

• 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 see the specific form N34- Whole exome sequencing
Please ensure to attached a maternal EDTA whole blood sample to each prenatal exome sample request (screening for maternal contamination)
Please attach the specific request form B61-INTGB Cardiogenic exome
Please inform us when an urgent or prenatal exome is expected.

Specific equipment available

• K34 : Kit Exome

Documents to download

• Specific Request Form(B61-INTGB)
• Specific form (N34-INTGB: whole sequencing exome)

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