Hereditary Sideroblastic Anemia NGS panel

Hereditary Sideroblastic Anemia NGS panel

Genes
(full coding
region):
ABCB7, ALAS2, GLRX5, HSPA9, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2

List of diseases covered by the panel


Lab method: NGS panel with CNV analysis

TAT: 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Tuberous Sclerosis NGS panel

Tuberous Sclerosis
NGS panel

Genes
(full coding
region):
TSC1, TSC2

Non-coding variants: List of non-coding variants covered by the panel

Lab method: NGS

TAT: 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: TSC1, TSC2

Lab method: MLPA

TAT: 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Tangier Disease

Tangier Disease
Sequencing of the ABCA1 gene

Genes
(full coding
region):
 ABCA1

Lab method: NGS

TAT: 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Differential diagnosis
3. Genetic counceling

Tangier disease is characterised by hypocholesterolaemia, extremely low or absent level of HDL cholesterol, modestly decreased LDL cholesterol and elevated triglycerides in plasma.

The major clinical signs of Tangier disease include hyperplastic yellow-orange tonsils, hepatosplenomegaly, and peripheral neuropathy. Rarer complications may include corneal opacities that typically do not affect vision, premature atherosclerotic coronary artery disease, and mild hematologic manifestations, such as mild thrombocytopenia, reticulocytosis, stomatocytosis, or hemolytic anemia.

Tangier disease is inherited in an autosomal recessive manner. Tangier disease is caused by variants in the ABCA1 gene. Global prevalence of the disease is 1:640 000.

References:
Assmann G et al 2001. Familial analphalipoproteinemia: Tangier disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. 8 ed. Vol 2. New York, NY: McGraw-Hill; 2001:2937-80.
Burnett JR et al 2019. Tangier Disease. GeneReviews® [Internet]. November 21, 2019.
Hooper AJ et al 2017. Clinical utility gene card for: Tangier disease. European Journal of Human Genetics volume 25, pagese1–e3(2017).

Asper Biotech at MiSeq Day

Asper Biotech’s scientist Piret Põiklik gives a presentation at MiSeq Day in Helsinki on Monday 2nd December. The presentation will focus on implementation of Illumina TruSight Exome assay in a routine laboratory setting. The meeting held by Illumina Ltd is targeted on the multitude of different applications for the MiSeq.

Whole exome sequencing for just 890 Euros

Asper Biotech is offering whole exome sequencing at introductory price of 890 Euros providing average coverage of 50x per exome.

As the summer is approaching it is now a good time to collect samples for sequencing with excellent quality and low-cost. The call for sample shipment starts today and lasts till the 31st of August.

Technical details:

  • Price 890 Euros per sample
  • 50x coverage
  • Annotated VCF file
  • Target region size 37 Mb
  • Number of target exons 201 121
  • Final day for the shipment 31st of August
  • TAT 13 weeks

Just place the samples in the envelope, include the filled form and send to
Asper Biotech
Vaksali 17a
Tartu 50410
Estonia
Ph: +372 7307 295

PS. Please note that although diagnostic package is also included to the form the stated price is for genotyping service only.

Next generation sequencing services out now

Next-generation sequencing (NGS) technologies have improved throughout the years as rapid, high-throughput and cost-effective approaches to fulfil medical sciences and research demands. Asper Biotech has now implemented Illumina MiSeq to it’s routine workflow and offers a variety of NGS services in it’s CLIA certified laboratory. The list of services can be found from Asper Biotech’s page here. Our highly experienced scientific team as well as medical doctors are here to deliver you the results for both scientific and medical diagnostic projects. Just contact info[at]asperbio.com for more information.

Genetic tests

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
UPDATED
Hereditary Hemorrhagic Telangiectasia
Hyperlipoproteinemia, type 3
Hyperlipoproteinemia, type 5
Hypertriglyceridemia
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
Thrombophilia
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
Thrombocytopenia
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
Hemochromatosis
Lysosomal Storage Disease
Metabolic Myopathy and Rhabdomyolysis
Methylmalonic Aciduria and Homocystinuria
Mucopolysaccharidosis NEW
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

Asper Nephrology

Bardet Biedl Syndrome
Bartter Syndrome
Branchiootorenal Syndrome
Ciliopathy
Hemolytic Uremic Syndrome
Hypomagnesemia NEW
Nephronophthisis
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
Craniosynostosis
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

Achromatopsia
Age-Related Macular Degeneration
Aniridia
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
Cataract
Choroideremia
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
Glaucoma
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy
Norrie Disease
Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome UPDATED
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
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.

 

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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