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/

Genetic tests

Asper Ophthalmics

Achromatopsia
Age-Related Macular Degeneration
Aniridia
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis
Autosomal Dominant Retinitis Pigmentosa
Autosomal Recessive Retinitis Pigmentosa
Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
Cataract
Choroideremia
Cone-Rod Dystrophy
Congenital Stationary Night Blindness
Corneal Dystrophy
Glaucoma
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy
Norrie Disease
Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
Optic Atrophy
Papillorenal Syndrome
Retinoblastoma
Senior-Loken Syndrome
Stargardt Disease
Usher Syndrome
Vitelliform Macular Dystrophy
Vitreoretinopathy
X-Linked Retinitis Pigmentosa (RPGR ORF15 included)
X-Linked Retinoschisis
Eye Diseases NGS panel of 283 genes
Whole Exome Sequencing

Asper Reprogenetics

Ashkenazi Jewish Diseases
Carriership Testing
Cystic Fibrosis
Folate-Dependent Neural Tube Defects
Fragile X Syndrome
Male Factor Infertility
Maternal Cell Contamination
Whole Exome Sequencing

Asper Oncogenetics

Breast and Ovarian Cancer
Cancer Predisposition
Familial Adenomatous Polyposis
Fanconi Anemia
Lynch Syndrome/Hereditary Non-Polyposis Colon Cancer
Melanoma
Microsatellite instability
MUTYH-associated polyposis
Nijmegen Breakage Syndrome
Polyposis Syndromes
Thyroid Cancer
Whole Exome Sequencing

Asper Cardiogenetics

Apolipoprotein C-II Deficiency
Arrhythmia
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Brugada Syndrome
Catecholaminergic Polymorphic Ventricular Tachycardia
Dilated Cardiomyopathy
Ehlers-Danlos Syndrome
Familial Hypercholesterolemia
Familial Lipoprotein Lipase Deficiency
Familial Thoracic Aortic Aneurysms and Dissections and Related Syndromes
Hyperlipoproteinemia, type 3
Hyperlipoproteinemia, type 5
Hypertriglyceridemia
Hypertrophic Cardiomyopathy
Lecithin Cholesterol Acyltransferase Deficiency
Long QT Syndrome
Noonan Syndrome
Pulmonary Arterial Hypertension
Short QT Syndrome
Statin-Induced Myopathy
Tangier Disease
Thrombophilia
Whole Exome Sequencing

Asper Neurogenetics

Amyotrophic Lateral Sclerosis
Autism Spectrum Disorders
Charcot-Marie-Tooth Disease
Congenital Myopathy and Distal Myopathy
Cornelia de Lange Syndrome
Craniosynostosis
Dystonia
Fragile X Syndrome
Frontotemporal Dementia
Epilepsy
Hereditary Spastic Paraplegia
Joubert Syndrome
Leukodystrophy and Leukoencephalopathy
Limb-Girdle Muscular Dystrophy
Menkes Disease
Microcephaly
Mitochondrial Diseases
Neurodegeneration with Brain Iron Accumulation
Parkinson’s Disease
Smith-Lemli-Opitz Syndrome
Spinocerebellar Ataxia
Tuberous Sclerosis
Wilson Disease

Whole Exome Sequencing

Asper Otogenetics

Alport Syndrome
Aminoglycoside-Induced Deafness
Branchiootorenal Syndrome
Jervell and Lange-Nielson Syndrome
Pendred Syndrome
Sensorineural Hearing Loss
Stickler Syndrome
Treacher Collins Syndrome
Usher Syndrome
Waardenburg Syndrome
Zellweger Spectrum Disorders
Whole Exome Sequencing

Asper Hematology

Alpha Thalassemia
Beta Thalassemia
Fanconi Anemia
Hereditary Sideroblastic Anemia
Thrombocytopenia
Whole Exome Sequencing

Asper Dysmorphology

Brain malformations
Craniosynostosis
Microcephaly
Noonan Syndrome
Skeletal Ciliopathies
Skeletal Dysplasia
Smith-Lemli-Opitz Syndrome
Whole Exome Sequencing

Asper Endocrinology

Androgen Insensitivity Syndrome
Combined Pituitary Hormone Deficiency
Familial Hypocalciuric Hypercalcemia
Hypothyroidism and Thyroid Hormone Resistance
Maturity Onset Diabetes of the Young (MODY)
Thyroid Dyshormonogenesis
Whole Exome Sequencing

Asper Metabolic Disorders

Citrin Deficiency
Citrullinemia, type 1
Fatty Acid Oxidation Disorder
Glutaric Aciduria, type 1
Glutaric Aciduria, type 2
Glycogen Storage Disease
Hemochromatosis
Lysosomal Storage Disease
Metabolic Myopathy and Rhabdomyolysis
Methylmalonic Aciduria and Homocystinuria
Porphyria
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
Smith Lemli Opitz Syndrome
Urea Cycle Disorder
Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Whole Exome Sequencing

Company profile

Genetic testing company Asper Biotech has been acquired by Asper Biogene LLC and hereafter will be operating under the name of Asper Biogene. The deal was concluded in July 2017 to enhance the testing services and expand into new markets. The company is maintaining its focus on diagnostics for rare and common hereditary diseases.

In 19 years our testing menu has become one of the most comprehensive in the clinical diagnostics field. Starting with tests for eye diseases, we have broadened the testing scope, which now encompasses to neurological, cardiological, oncological, hematological etc. areas. Besides our best-known portfolio – Asper Ophthalmics seven new testing portfolios have been launched. As our aim is to provide flexible and customer-friendly services, our clients are always encouraged to ask for customized tests and testing solutions.

Our laboratory is an authorized medical laboratory, CLIA (#99D2046227), ISO 15189:2012, and ISO 9001:2015 certified. We are participating in the European Molecular Genetics Quality Network (EMQN) quality assessment schemes in order to deliver genetic services at the highest level of quality standards.

Our clients, including leading university hospitals, private clinics, commercial laboratories and research organisations are from more than 40 countries. Development and elaboration of new tests are continuous processes in our daily practice to meet the customers’ needs and provide testing services to more patients and healthcare providers. We are also offering custom-test development with complete workflow and full customer support.

Besides providing genetic diagnostic services, we are an appreciated scientific partner for many international R&D projects due to our innovation-driven approach and long-lasting experience. We have had successful collaboration with different funding agencies supporting R&D activities, which have led to technological improvements and moreover to state-of-the-art genetic tests. Our expertise is widely recognized by participation in numerous European-wide research projects where we have been incorporated as an essential partner.

About Asper Biotech

Asper Biotech was established in 1999 as a spin-off of a research organization called the Estonian Biocentre. Since then Asper Biotech quickly became a leading Estonian biotechnology exporter due to its extensive services and the quality of the results.

Contacts

General contacts

Asper Biogene LLC
Vaksali 17a, 50410
Tartu, Estonia
info[at]asperbio.com
www.asperbio.com
Tel  +372 7307 295
Fax +372 7307 298Asper Biogene Customer Service
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Genetic testing services

Genetic testing at Asper Biogene

Genetic testing services offered by Asper Biogene comply with the highest level quality standards and are certified by Clinical Laboratory Improvement Amendments (CLIA) and ISO 15189:2012. We regularly participate in external quality assurance schemes to maintain the highest level of testing services.

Single mutation analysis

Single mutation analysis for any familial or known mutation.

Single gene sequencing

Sequencing of the entire coding region of any single gene.

Targeted regions sequencing

Targeted regions sequencing includes the analysis of selected hotspot regions in disease associated genes.

Deletion/duplication analysis

Deletion/duplication analysis for the genes listed in our test menu.

Next generation sequencing (NGS) panels

Our testing menu includes a wide variety of carefully constructed NGS panels. Ten essential medical specialities are covered by our clinically relevant, validated, and up-to-date gene panels. NGS panels include the sequencing of entire coding regions plus flanking intronic regions. Likely pathogenic or pathogenic variants are confirmed by Sanger sequencing.

We upgrade the existing gene panels continuously as well as create additional ones based on new scientific knowledge and customer requests. 

Customized NGS panels

In addition to ready-to-use tests, we develop and implement custom-made tests and solutions to meet our customers’ specific needs. 

Existing NGS panels are easily adjustable for your clinical practice and patients’ indications.

For customized NGS panels, fill in the Custom test order form or ask for more information on redesigning solutions for additional panels.

Whole exome sequencing (WES)

WES includes the sequencing of coding regions and their flanking intronic regions in approximately 20,000 genes of the human genome. The coding region represents 1–2% of the human genome but contains approximately 85% of the disease-causing mutations.

WES is an effective option to detect the rare causal variants of Mendelian disorders. Service can be useful for clinicians to diagnose affected patients with conditions that have eluded traditional diagnostic approaches.

Phenotype/diagnosis associated likely pathogenic or pathogenic variants are confirmed by Sanger sequencing.

Whole genome sequencing (WGS)

WGS determines the complete DNA sequence of an individual’s genome, including chromosomal DNA and mitochondrial DNA.

WGS covers the sequencing of the entire coding and non-coding regions of the genome. WGS enables detection of non-coding sequence variants that could be informative in diagnosing genetically and phenotypically heterogeneous or undiagnosed diseases. WGS can reveal the full range of variations, including single nucleotide variations, copy number variations, changes in transposable elements, and structural variations.

Phenotype/diagnosis associated likely pathogenic or pathogenic variants are confirmed by Sanger sequencing.

Trio exome or genome sequencing of family members (usually affected child with parents) is highly recommended for faster and more precise identifying of disease-causing mutations and determining the inheritance pattern. In addition to the patient’s phenotype/disease associated variants, incidental findings are reported according to  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Bioinformatic analysis and interpretation of customer’s genetic data

Asper Biogene’s qualified geneticists analyze and interpret your sequencing data, deletion/duplication analysis results etc.

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

Results report

Our results report contains detailed information on the detected variants, including bioinformatics analysis, biological interpretation, comprehensive clinical interpretation and recommendations for follow-up analyses. Rare and known pathogenic variants are assessed and classified according to the standards and guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Confirmation of likely pathogenic or pathogenic variants is performed by Sanger sequencing.