BRAIN
MALFORMATION
A common term for conditions in which the brain of the fetus has not developed properly during pregnancy.
BRAIN MALFORMATION (BMF)
Brain malformation is a common term for conditions in which the brain of the fetus has not developed properly during pregnancy. This abnormal development can be caused by genetic mutations, exposure to radiation, the use of certain medicines, or infections during pregnancy. Brain malformation is associated with neurological and developmental problems. The severity of the condition correlates with the severity of structural malformation of the brain itself, this malformation is highly variable and requires careful assessments to detect. Some symptoms develop later in life, and some might improve with time.
Genetic tests can establish the etiology and mechanism of the disease, and in certain cases allow for more targeted treatment. In many cases, the treatment is symptomatic such as antiseizure medicines, shunts to drain the fluid from the brain, and physical therapy.
Amplexa Genetics offers a screening solution for brain malformation with a designed panel consisting of 821 genes. The genes are based on clinical evidence, scientific publications, Human Gene Mutation Database (HGMD), and Online Mendelian Inheritance in Men (OMIM).
PANEL CONTENT
Amplexa Genetics offers a screening solution for the described conditions with the Brain Malformation panel consisting of 821 genes. The genes are based on clinical evidence, scientific publications, the Human Gene Mutation Database (HGMD), and Online Mendelian Inheritance in Men (OMIM).
The panel is evaluated and updated regularly.
ANALYSIS TECHNIQUE
Focal Cortical Dysplasia 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.
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.
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.