Ehlers-Danlos Syndromes

Ehlers-Danlos syndromes (EDS) are a group of hereditary disorders of connective tissue supporting the skin, joints, blood vessels, and many other organs and tissues. The underlying cause is an abnormal structure or function of collagen and proteins that provide strength and elasticity.
There are different types of EDS and the severity of the complications, and the symptoms depends on the type.  The most common symptoms are hypermobility, joint instability, scoliosis, skin hyperextensibility, and occurrence of rupture in the blood vessels in severe cases.  

Amplexa Genetics offers screening solution for EDS with a designed panel consisting of 41 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 screening solution for EDS with a designed panel consisting of 41 genes. The genes are based on clinical evidence, scientific publications, Human Gene Mutation Database (HGMD), and Online Mendelian Inheritance in Men (OMIM).

 

The panel is frequently evaluated and updated. To see the full panel, click on the icon below.

ANALYSIS TECHNIQUE

EDS analysis 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. 

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 bioinformatic pipeline performs variable calling and filtering calling

Metrics: Average read depth >100-fold. On target coverage,>97% at a >20-fold read depth.