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 Cardiogenetics

Apolipoprotein C-II Deficiency
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
Hereditary Hemorrhagic Telangiectasia
Hyperlipoproteinemia, type 3
Hyperlipoproteinemia, type 5
Hypertrophic Cardiomyopathy
Lecithin Cholesterol Acyltransferase Deficiency
Left Ventricular Noncompaction Cardiomyopathy NEW
Long QT Syndrome
Noonan Spectrum Disorders/Rasopathies UPDATED
Pulmonary Arterial Hypertension
Short QT Syndrome
Statin-Induced Myopathy
Tangier Disease
Whole Exome Sequencing

Asper Dermatology

Cutis Laxa UPDATED
Ehlers-Danlos Syndrome UPDATED
Epidermolysis Bullosa UPDATED
Hermansky-Pudlak Syndrome UPDATED
Hypotrichosis UPDATED
Ichthyosis UPDATED
Melanoma UPDATED
Neurofibromatosis UPDATED
Oculocutaneous Albinism UPDATED
Palmoplantar Keratoderma
Tuberous sclerosis UPDATED
Waardenburg Syndrome UPDATED
Whole Exome Sequencing

Asper Dysmorphology

Brain malformations UPDATED
Cornelia de Lange Syndrome UPDATED
Craniosynostosis UPDATED
Frazer Syndrome UPDATED
Microcephaly UPDATED
Noonan Spectrum Disorders/Rasopathies UPDATED
Osteogenesis Imperfecta UPDATED
Skeletal Ciliopathies
Skeletal Dysplasia UPDATED
Smith-Lemli-Opitz Syndrome
Whole Exome Sequencing

Asper Endocrinology

Androgen Insensitivity Syndrome
Combined Pituitary Hormone Deficiency
Congenital Adrenal Hyperplasia NEW
Familial Hypocalciuric Hypercalcemia
Hyperinsulinism NEW
Hypothyroidism and Thyroid Hormone Resistance UPDATED
Kallmann Syndrome
Maturity Onset Diabetes of the Young (MODY)
Thyroid Dyshormonogenesis
Whole Exome Sequencing

Asper Hematology

Alpha Thalassemia
Beta Thalassemia
Coagulation Disorders
Fanconi Anemia
Hereditary Sideroblastic Anemia
Neutropenia NEW
Severe Combined Immunodeficiency NEW
Whole Exome Sequencing

Asper Metabolic Disorders

Citrin Deficiency
Citrullinemia, type 1
Congenital Disorders of Glycolysation
Fatty Acid Oxidation Disorder
Glutaric Aciduria, type 1
Glutaric Aciduria, type 2
Glycogen Storage Disease
Lysosomal Storage Disease
Metabolic Myopathy and Rhabdomyolysis
Methylmalonic Aciduria and Homocystinuria
Mucopolysaccharidosis NEW
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

Asper Nephrology

Bardet Biedl Syndrome
Bartter Syndrome
Branchiootorenal Syndrome
Hemolytic Uremic Syndrome
Hypomagnesemia NEW
Nephrotic Syndrome
Polycystic Kidney Disease
Primary Ciliary Dyskinesia
Senior-Loken Syndrome
Whole Exome Sequencing

Asper Neurogenetics

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

Whole Exome Sequencing

Asper Oncogenetics

Breast and Ovarian Cancer
Cancer Predisposition
Familial Adenomatous Polyposis
Fanconi Anemia
Lynch Syndrome/Hereditary Non-Polyposis Colon Cancer
Melanoma UPDATED
Microsatellite instability
MUTYH-associated polyposis
Nijmegen Breakage Syndrome
Polyposis Syndromes
Prostate Cancer UPDATED
Renal Cancer NEW
Thyroid Cancer
Von Hippel-Lindau Disease
Whole Exome Sequencing

Asper Ophthalmics

Age-Related Macular Degeneration
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis
Autosomal Dominant Retinitis Pigmentosa
Autosomal Recessive Retinitis Pigmentosa UPDATED
Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
Cone-Rod Dystrophy
Congenital Fibrosis of Extraocular Muscles NEW
Congenital Stationary Night Blindness
Corneal Dystrophy
Ectopia Lentis
Eye Diseases NGS panel of 294 genes UPDATED
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy
Norrie Disease
Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome UPDATED
Optic Atrophy
Papillorenal Syndrome
Senior-Loken Syndrome
Stargardt Disease
Usher Syndrome
Vitelliform Macular Dystrophy
X-Linked Retinitis Pigmentosa (RPGR ORF15 included)
X-Linked Retinoschisis
Whole Exome Sequencing

Asper Otogenetics

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

Asper Pharmacogenetics

Aminoglycoside-Induced Deafness
Antidepressants PGx
Contraceptives + HRT PGx
Malignant Hyperthermia
Statin-Induced Myopathy

Asper Reprogenetics

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

Company profile

Asper Biogene is a genetic testing company focused on diagnostics of hereditary diseases. Multiple medical specialties are covered by our comprehensive testing selection extending from single gene analysis to whole genome sequencing.

In Asper Biogene we are constantly upgrading our testing menu and diagnostic possibilities to achieve the ultimate ambition that no disease goes undiagnosed.

Our laboratory is an authorized medical laboratory, 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.



General contacts

Asper Biogene LLC
Vaksali 17a, 50410
Tartu, Estonia
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. 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 and pathogenic variants are confirmed by Sanger sequencing.

    In addition, CNV analysis based on sequencing coverage depth data is also available. Likely pathogenic and pathogenic findings are confirmed using another technology such as aCGH, qPCR, or MLPA when applicable. 

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

    CNV analysis based on sequencing coverage depth data is available as an expanded testing option. Likely pathogenic and pathogenic findings are confirmed using another technology such as aCGH, qPCR, or MLPA when applicable.

    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.

    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 and 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.