NGS panels with shorter TAT

We have shortened turnaround times for all NGS panels in order to provide better and faster services to our customers. Genotyping service TAT is 3-6 weeks, diagnostic package with clinical interpretation is available in 6-9 weeks. Additionally, Sanger sequencing and microarray-based analyses are also performed with shorter time, being ready in 2-4 weeks.

Expanded NGS panels

Usher syndrome NGS panel now includes 20 genes – ABHD12, CDH23, CIB2, CLRN1, COL4A6, DFNB31, DSPP, GIPC3, GPR98, HARS, KARS, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH2A, USH1C, and USH1G. Leber congenital amaurosis test has also been expanded to 20 genes – AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, and TULP1. Skeletal dysplasia testing panel has been updated with two new genes – TRIP11 and WNT5A.

Shorter TAT for NGS gene panels

We are pleased to inform you that to allow more rapid diagnosis and counseling of patients we have started to provide NGS service with considerably shorter turnaround time. From now on TAT is 8 weeks for genotyping and 12 weeks for diagnostic package service for all NGS panels.

15 years in genetics − 15% discount for NextGen

Asper Biotech is celebrating its 15th year in genetic testing. Since founding in 1999 it has seen great development in understanding the changes in human genes from sophisticated science projects to the everyday use of genetic data. By celebrating its 15th anniversary and honoring new technologies Asper Biotech is offering 15% discount from all Next Generation Sequencing tests during its birthday month from 17th of March to 17th of April. Just contact info[at]asperbio.com for more information.

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
Stargardt Disease
Usher Syndrome
Vitelliform Macular Dystrophy
Vitreoretinopathy
X-Linked Retinitis Pigmentosa (RPGR ORF15 included)
X-Linked Retinoschisis
Eye Diseases NGS panel of 277 genes
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
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
Exome Sequencing

Asper Cardiogenetics

Apolipoprotein C-II Deficiency
Arrhythmia
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Brugada Syndrome
Catecholaminergic Polymorphic Ventricular Tachycardia
Dilated Cardiomyopathy
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

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
Exome Sequencing

Asper Hematology

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

Asper Dysmorphology

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

Asper Wellness

Age-Related Macular Degeneration
Alzheimer Disease, Recovery from Traumatic Brain Injury, Coronary Heart Disease
Athletic Performance
Celiac Disease
Lactose Intolerance
Nutri inCode
Thrombophilia
Exome Sequencing

Supportive services

Flexible approach to gene panels

In diagnosing complex disorders, it may be necessary to use wider range of genes than initially determined, or combine different gene panels. We can easily redesign our existing gene panels to match your clinical practice or research project. Additional fee will not be added. Contact info[at]asperbio.com to ask for personal solutions.

 

Bioinformatic analysis and interpretation of customer’s genetic data

Asper Biogene’s 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.

 

Pre- and post-test consultation by email/phone/Skype

Medical geneticist is available for pre- and post-test consultation (60 €) to referring physicians and health-care professionals. Contact info[at]asperbio.com to register for consultation.