TRIO EXOME ANALYSIS

Trio exome analysis of family pedigrees (patient-father-mother) based on Next Generation Sequencing (NGS) offers a powerful approach to identify causal mutations for inherited diseases or medical conditions. This analysis can be used to identify variants inherited from the parents causing recessive disease or dominant disease. Furthermore, de novo variants that occur in the patient but are not present in either of the parents can also be detected.  Trio exome analysis using whole exome sequencing enables analysis of thousands of genes to identify genetic alterations such as insertions/deletions, single nucleotide variants (SNVs), and copy number variations (CNVs). The overall diagnostic yield of trio exome analysis is 5-10% higher compared to analysing proband only. Amplexa Genetics offers the trio exome analysis, and this diagnostic test can be adaptable to any medical specialty.

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ANALYSIS TECHNIQUE

Trio exome analysis is performed using Next Generation Sequencing (NGS), an advanced technique that allows deep sequencing of enormous amounts of DNA. The technique is groundbreaking technology in the field pf genetics, and allows different approaches to high-throughput, scalable sequencing.

Follow the link below for more information on NGS.

NGS Solutions

BIOINFORMATICS

Panels may include both codings, non-coding, and regulatory regions of the genome, sequenced to a minimum depth of 20. Any coding regions are analyzed +/- 10 base pairs from the exon-intron boundary.

The data is analyzed and annotated with ourstate-of-the-art in-house developed computational pipeline, integrating high-tech machine learning algorithms with industry-standard software solutions to deliver the most comprehensive data analysis. Throughout the workflow, rigorous quality control steps ensure consistent, valid, and accurate results.A plethora of professional, curated databases are integrated into our pipeline, including, but not limited to, gnomAD, ClinVar, Omim, HGMD, RefSeq, and DBSNP, ensuring high confidence variant classifications. Furthermore, several prediction tools are integrated into the variant classification, such as SIFT, PolyPhen, MutationTaster, AION, SpliceFinder, etc. All quality assessment metrics are available upon request. In case of failure to acquire data from specific genomic target regions within a panel, you will be notified.

Bioinformatics

SAMPLE REQUIREMENTS

  • Blood (2-5 ml EDTA-blood)
  • DNA (minimum 3 µg)
  • Saliva (minimum 2mL)

TEST SPECIFICATIONS

The test is performed on whole exome data. Chemistry: Twist Biosystems Human Core Exome Hardware: Illumina Novaseq 6000 Sequencer Data processing: An in-house bioinformatic pipeline performs variable calling and filtering calling Metrics: Average read depth >100-fold. On target coverage, >97% at a >20-fold read depth.

TERMS

By ordering an analysis at Amplexa Genetics A/S, the requester confirms to have obtained the necessary informed consent for the performance of the requested analyses and accepts Amplexa Genetics Terms and Conditions. A hard-copy requisition or an e-mail stating the specific study together with the receipt of a sample is considered an order to conduct the analysis.

From the day of order receipt, the turnaround time is five weeks.