Updates in Asper Ophthalmics

Asper Ophthalmics testing menu has been updated with Senior-Loken Syndrome gene panel. We have also added a number of genes to Cone-Rod Dystrophy, Vitelliform Macular Dystrophy, and comprehensive eye diseases panels. Comprehensive eye diseases panel now covers 283 genes associated with different eye disorders. View updated testing options at www.asperbio.com/asper-ophthalmics/

Asper Biogene at EAN Congress 2018

We will be attending the 4th Congress of the European Academy of Neurology in Lisbon, 16-19 June. Do not miss the opportunity to get informed about recent developments and news in clinical neurology. Stop by the exhibition hall to learn about Asper Neurogenetics tests and get acquainted with our experts. Looking forward to meeting you at booth #C24!

Del/dup analysis

Del/dup analysis can now be ordered in addition to NGS panels. Read more about upgraded testing options at each portfolio or see the price list www.asperbio.com/Asper-Biogene-price-list. Feel free to contact us if there are any additional genes you would need to be included in the analysis.

Congenital Myopathy and Distal Myopathy NGS panel

Congenital Myopathy and Distal Myopathy NGS panel has been added to Asper Neurogenetics portfolio. The new panel includes analysis of 43 genes linked to numerous types of myopathy. Learn more about test www.asperbio.com/congenital-myopathy-and-distal-myopathy

We would be very grateful for any comments on whether this panel can enhance your testing activities or additional genes/conditions should be involved in the panel. Contact us at info[at]asperbio.com and give your feedback.

End-of-Year Price Reduction!

All our catalogue prices will be reduced by 10% for the next two months. Use the great opportunity and make sure  to place your order before January 31, 2018.

Asper Metabolic Disorders

Asper Biogene is pleased to introduce our new testing portfolio of metabolic disorders. Single gene tests as well as multigene panels are included in Asper Metabolic Disorders’ menu. Glycogen and lysosomal storage diseases, fatty acid oxidation disorders, and urea cycle disorders are represented among others.

Full list of tests is available on www.asperbio.com/asper-metabolic-disorders

New tests in Asper Cardiogenetics

We have expanded our selection of cardiovascular genetic tests to include tests for different types of dyslipidemias, cardiomyopathies, and arrhythmias.  In addition, pulmonary arterial hypertension test has been upgraded with a set of genes to facilitate differential diagnosis. Full list of tests is available: www.asperbio.com/asper-cardiogenetics/

Skeletal Ciliopathies

Asper Dysmorphology now includes NGS panel for the diagnostics of skeletal ciliopathies. The panel encompasses testing of different forms of short-rib thoracic dysplasia as well as phenotypically overlapping disorders like cranioectodermal dysplasias. For further information visit www.asperbio.com/skeletal-ciliopathies

Asper Endocrinology now launched

Asper Endocrinology testing portfolio has been launched now. Our latest testing selection is designed for the diagnostics of both monogenic, and complex hereditary endocrine disorders.

Since molecular diagnostics has become the daily practice of endocrinology we are to provide valuable tool for clinicians in order to facilitate diagnosing, optimize treatment, and identify at risk family members.

List of the tests is available on www.asperbio.com/asper-endocrinology/

Melanoma NGS panel

Melanoma NGS panel is now available. For detailed information see www.asperbio.com/melanoma. Feel free to throw out suggestions for the genes you would like to add to the panel.

CMT panel

Charcot-Marie-Tooth Disease NGS panel has been upgraded with the following genes: ARSA, HINT1, HSPB3, KIF1A, NGF, SCN9A, SLC5A7, SPTLC1, SPTLC2, TFG, TYMP, WNK1.

The new version of the test covers the analysis of 67 genes. Full list of genes is available on www.asperbio.com/cmt.

Management news

We wish to inform our clients and partners that Asper Biotech has been acquired by Asper Biogene LLC and is therefore under new management. The business and day-to-day operations will continue to be conducted as usual and the change in ownership will not bring about any changes to client relationships and processes. Corporate identity of the company will be renewed in the near future.

Whole Genome Sequencing

Whole Genome Sequencing

We have extended our testing options to whole genome sequencing (WGS). WGS is the most comprehensive tool for identifying the full range of genetic variations. Including the non-coding regions of the genome in the analysis can considerably improve the diagnosing of genetically and phenotypically heterogeneous diseases.

Our high quality data and thorough interpretation of analysis results contribute substantially to diagnosing complex diseases or diseases with atypical phenotype.

Service details are available https://www.asperbio.com/ngs-service/

Asper Biotech 18 years

As Asper Biotech is turning 18 today we would like to thank all our loyal customers and partners for being part of this journey and for supporting us over the years. Though celebrating the anniversary we are still keeping busy with upgrading the testing portfolios. Asper Ophthalmics has been updated with several new tests inquired by our customers. These include NGS panels for anophthalmia/microphthalmia/coloboma/anterior segment dysgenesis and cataract as well as single gene sequencing for Norrie Disease and papillorenal syndrome.

Rare Disease Day

Today is Rare Disease Day. Over 90 countries worldwide are participating in different events to raise more awareness for rare diseases. Asper Biotech’s representative is attending a roundtable discussion at the Parliament of Estonia about possibilities and challenges within the rare disorders research, provision of medical care and services.

PREDICTION-ADR Consortium Meeting

PREDICTION-ADR project close-out meeting was held this week in Tallinn. The meeting was very presentable involving participants from different European countries.

The aim of the PREDICTION-ADR study was to discover the genetic factors predisposing patients to adverse drug reactions from cardiovascular disease drugs. The meeting wrapped up achievements of the project funded by the European Commission. New prospectives for further collaboration of consortium members were considered as well.

The event ended up with an inspiring visit to historical Tallinn Town Hall, the oldest in Scandinavia.

Clinical interpretation of your genetic data

We set about to provide bioinformatic analysis and interpretation of your genetic data. Our highly qualified geneticists are analyzing and interpreting your sequencing data, deletion/duplication analysis results etc.

Our thorough clinical interpretation includes phenotypic and clinical information evaluation; careful classification of variants based on population frequency, variant databases, in-silico prediction models and conservation scores; as well as recommendations for further testing strategies if necessary. Identified findings are reported according to the American College of Medical Genetics and Genomics (ACMG 2015) recommendations.

Ask customized solution from our experienced team to facilitate your clinical practice.

Expanded Dystonia Panel

We have improved our Dystonia NGS panel with 29 genes, the new upgraded version now includes 39 genes related to different types of dystonia and syndromes with clinical features of dystonia. New genes added to the panel are associated with dystonia types 2, 3, 4, 11, 23, 24, 25, 26, 27, and disorders such as hypermanganesemia, glutaric aciduria, familial dyskinesia with facial myokymia, neurodegeneration with brain iron accumulation, and others. Full list of the genes covered by the panel is available https://www.asperbio.com/asper-neurogenetics/dystonia/dystonia-ngs-panel/

Asper Biotech at ESHG 2016, in Barcelona

We are glad to invite you to meet our staff at ESHG 2016 (stand #250) in Barcelona, May 21-23. We will be presenting several new tests and services at the exhibition.

To benefit more from our thorough results reports, we’d like to make an excellent offer for our current and new customers. Our diagnostic package service that includes detailed medical interpretation is available with the price of genotyping service for all NGS panels ordered from the beginning of May to the end of June. So, don’t miss to call on our booth to learn more about the new gene panels and services, and let us know how we can improve.