BRAIN MALFORMATION (BMF)

Brain malformation is a common term for conditions where the brain has not formed correctly during pregnancy. Most of these problems in brain structure are associated with neurological and developmental issues. Amplexa Genetics performs genetic tests to establish the cause, etiology, and mechanism of the disease, thereby allowing more targeted treatment.

PANEL CONTENT

The current panel is updated and consists of 821 genes associated with brain malformations.
Click on the gene list icon for information about Gene name - Gene ID - OMIM ID.

ANALYSIS TECHNIQUE

Brain Malformation Panel is performed using Next Generation Sequencing (NGS), an advanced technique that offers deep, large-scale deciphering of the genome. The technique has revolutionized genetics by enabling different approaches for high-throughput, scalable sequencing. Click on the icon for more information about NGS.

BIOINFORMATICS

Panels may include both coding, 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 our state-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. Click on the icon for more information about BIOINFORMATICS. 

SAMPLE REQUIREMENTS

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

TEST SPECIFICATIONS

The test is performed as data extract (virtual targeted panel) from whole exome data.

 

Chemistry: Twist Biosystems Human Core Exome

 

Hardware: Illumina Novaseq 6000 Sequencer

 

Data processing: An in-house bioinformatics 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.