Rare and Inherited Diseases

Rare and Inherited Diseases

RARE AND INHERITED DISEASES

Genomics is a driving force behind the diagnosis of rare and inherited diseases.

Rare and inherited disease discovery is a journey that can require different testing strategies and we have solutions that adapt to suit your needs. Our platform, SOPHiA DDM, reliably calls and prioritizes variants, turning complex and noisy genomic data sets from exome and targeted NGS solutions into valuable insights for data-driven decision-making.

LEARN MORE

ALAMUT™ VISUAL PLUS

Alamut™ Visual Plus can make reliable research decisions and customizable reports that effectively communicate the key variants and data backup.

  • For diseases with specific phenotypes, these solutions can provide a lower response time and cheaper sequencing costs.
  • For more complex phenotypes, we offer applications of the whole exome and clinical exome sequencing to assist in the relevant variants’ discovery.

For the easy location, we have categorized the solutions as shown:

  • Cardiovascular.
  • Neurological.
  • Metabolic.

Delivering the right answer can take, on average, 8 years or more of extensive and sometimes invasive testing. With comprehensive genomic testing, this timeline can be drastically shortened.

WE HAVE A BROAD PORTFOLIO OF SOLUTIONS, ANALYTICAL PIPELINES, AND CUSTOMIZATION OPTIONS SPECIFIC TO THE DISEASES AND GENES ANALYZED IN EACH LAB.

SOPHiA CARDIO SOLUTION (CAS)

Cardiac diseases are the main cause of death around the world.

Genetic testing is often considered a key component in the clinical treatment of inherited cardiovascular conditions, such as:

  • Cardiomyopathies - hypertrophic, dilated, and arrhythmogenic.
  • Cardiac channelopathies/arrhythmias.
  • Aortopathies.

SOPHiA CARDIO SOLUTION (CAS)

We bring more clarity to variants associated with cardiovascular diseases with our next-generation sequencing (NGS) applications. Also, the Virtual Solutions, Familial Variant Analysis, and Cascading Filters in the SOPHiA DDM™ Platform facilitate the prioritization of variants for further analysis.

WHAT DO WE OFFER?

The high-affinity probe design of both solutions ensures a high on-target rate and coverage uniformity. SOPHiA DDM™ provides 100% sensitivity and reproducibility with high confidence calling of SNVs, Indels, and CNVs.

Arrhythmias:

  • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).
  • Long and Short QT syndromes.
  • Brugada syndrome (BRS).

Cardiomyopathies:

  • Hypertrophic Cardiomyopathy (HCM).
  • Dilated Cardiomyopathy (DCM).
  • Restrictive Cardiomyopathy (RCM).
  • Left Ventricular Non-Compaction Cardiomyopathy (LVNC).
  • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC).

NEUROLOGICAL DISORDERS

Most rare and inherited diseases have a neurological component.

Most rare and inherited diseases have a neurological component. Neurological disorders are multifactorial and heterogeneous, meaning that their genetic basis is often poorly understood. Both targeted NGS solutions and exome sequencing play a role in discovering the genetic basis of these disorders.

LEARN MORE

APPLICATIONS

Genetics are heavily involved in the pathogenesis of hereditary neurological disorders, such as:

  • Neuropathies.
  • Ataxias.
  • Pathogenesis of some neurological disorders.
  • Neurodevelopmental.
  • Neuromuscular.

And more common and complex neurodegenerative, such as:

  • Migraine.
  • Autism.
  • Multiple sclerosis.
  • Alzheimer’s disease.
  • Epilepsy.

NEUROLOGICAL DISORDERS

SOPHIA GENETICS SOLUTIONS

They are capture-based NGS solutions, developed and evaluated by experts in genomics.

These solutions cover a broad range of neurological disorders, and they are fully customizable with the flexibility to add or remove genes to meet each unique lab requirement.

Quickly and accurately detect variants causing neurological disorders by leveraging on the advanced analytical capabilities and dedicated features of the SOPHiA DDM™ Platform complemented by Alamut™ Visual Plus.

COPY NUMBER VARIANTS (CNV)

They are a genetic risk factor for many neurological disorders.

The SOPHiA DDM™ platform filters data sets of noisy NGS to support precise CNV detection with an exon-level resolution. Coverage levels of target regions are evaluated across multiple samples in the same sequencing run. Therefore, it enables accurate CNV calling alongside SNV and Indel calling in a single experiment, facilitating a fast and cost-effective workflow.

of human genes are expressed in the brain

of neurological disorders have a molecular genetic diagnosis.

SOPHIA FOR METABOLISM

Metabolic disorders represent a growing health concern worldwide.

Over the last decade, substantial progress has been made in the discovery of genetic variants influencing a range of metabolic diseases.

For robust and accurate annotation of variant and gene function, novel algorithms and inferential frameworks are continuously emerging to advance the research and better inform healthcare professionals.

SOPHIA FOR METABOLISM

SOPHiA DDM™ for Metabolism helps you confidently and rapidly assess the most relevant genetic variants associated with complex inherited metabolic disorders, such as:

– Maturity Onset Diabetes of the Young (MODY).

– Familial lipid disorders.

– Familial hypercholesteremia.

Sequencing technology advances (NGS) have contributed to clarifying the pathogenic role of the variants associated with metabolic phenotypes. Therefore, this contributes to a significant improvement in diagnostic performance and rate.

SPECIFICATIONS

  • Knowledge of relevant variants with peers through global and local user networks.
  • Simultaneously analyze the mutations in seven of the known MODY genes in a single test: ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS, KCNJ11.
  • Efficiently detect mutations in four of the known genes associated with familial hypercholesterolemia in a single test: LDLR, PCSK9, APOE, APOB y 12 SNPs.
  • Uniform coverage of the most relevant genes linked to metabolic disorders.
  • Accurate identification of multiple types of variants in one assay.
  • Intuitive variant filter options.

The Metabolic Solutions allow the selection of genes and variants because of collaborative work from SOPHiA to do a customizable solution. Contact us for more information.

ARE YOU SEARCHING FOR MORE?

SOPHiA GENETICS
en_USEnglish
es_ESEspañol en_USEnglish