Clinical Genetic Tests

We offer comprehensive genetic diagnostics for all hereditary cardiovascular diseases, including diseases such as cardiomyopathies, channelopathies, aortopathies, connective tissue disorders, pulmonary arterial hypertension, congenital heart defects, rasopathies, and inherited dyslipidemias.

Genetic testing for cardiology

— Panels Update

Our panels are constantly updated and include over 664 added genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), and most recent medical literature. We provide enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Genetic diagnostics is becoming a mainstream practice in the field of cardiology and is recommended in guidelines from AHA, HRS-EHRA, ESC, and CCS (PMID: 22075469, 20823110, 21810866, and 21459272). It is also proven to be cost-effective as compared with regular clinical screening (PMID: 22128210 and 21139095)

— What genetic diagnostics can offer patients with cardiological diseases

Genetic diagnostics is the most efficient way to subtype hereditary cardiovascular diseases. It forms the basis for selecting the right treatment and making well-informed disease management decisions. In channelopathies, a genetic diagnosis can help to define lifestyle recommendations and select adequate medications, as well as aid in making decisions on placing an ICD. In aortic diseases, identifying the underlying genetic defect can help determine the timing of surgical intervention. For hypertrophic cardiomyopathy (HCM), a genetic diagnosis can be the only way to differentiate classical sarcomere disease from phenocopies such as Fabry disease, rasopathies, and glycogen storage disease. Knowing the underlying genetic defect can help to tailor treatment and follow-up strategies that improve a patient’s outcome. As a majority of these diseases are inherited in an autosomal dominant manner and have an elevated risk for sudden cardiac death, genetic diagnosis is considered the most effective tool for family-member risk stratification. Identifying family members at risk makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by healthcare professionals. Recommendations on lifestyle choices, such as avoiding competitive sports, can significantly benefit individuals carrying channelopathy and cardiomyopathy mutations. Genetic diagnosis can also help in family planning.

We offer comprehensive genetic diagnostics for hereditary skin diseases, including a variety of isolated and syndromic diseases with skin manifestations. These range from aplastic skin on the scalp in Adams-Oliver syndrome with terminal limb defects, hypoplastic or absent nails, congenital heart defects, microphthalmia, microcephaly, and CNS anomalies to severe, classic Hutchinson-Gilford progeria accompanied by accelerated aging.

Genetic testing for dermatology

— Panels Update

Our panels include genes selected based on curated gene reviews, variant databases, most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.

We offer comprehensive genetic diagnostics for all types of hereditary hearing loss and deafness. These diseases include nonsyndromic hearing loss, as well as syndromes in which hearing loss and deafness present along with defects affecting other parts of the body.

Genetic testing for ear, nose, throat

— Panels Update

Our panels are constantly updated and include over 664 added genes selected based on curated gene reviews, variant databases, and most recent medical literature. We provide enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels.

We offer comprehensive genetic diagnostics for inherited diseases of the endocrine system and infertility. Our endocrinology panels focus on the endocrine glands and tissues that secrete hormones.

Genetic testing for endocrinology

— Panels Update

Our panels include over 2600 genes selected based on curated gene reviews, variant databases, most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.

We offer comprehensive genetic diagnostics for hereditary gastrointestinal diseases. These include the gastrointestinal tract from the esophagus, stomach, small and large intestines to the rectum and the accessory organs of digestion: the liver, gallbladder, and pancreas.

Genetic testing for gastroenterology

— Panels Update

Our panels are constantly updated and include over 664 added genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), and most recent medical literature. We provide enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels.

Many diseases affecting the gastrointestinal organs are inherited or affect people that have a genetic predisposition to disease expression. Recent research has uncovered the genes responsible for many of these conditions. These medical conditions vary in severity and extent from single-organ to multi-systemic disorders. They can decrease quality of life, cause lifelong health problems, or end in premature death.

— What can genetic diagnostics offer patients with gastroenterological diseases?

Genetic diagnostics are the most efficient way to subtype these diseases – for example, classifying pancreatitis type as idiopathic or hereditary assists in differential diagnosis. Another example is to differentiate chronic pancreatitis from syndromic disorders accompanied by pancreatitis, providing the necessary information to make confident individualized treatment and management decisions.

Additionally, knowing the exact genetic cause can help determine any additional risks for a patient. For instance, occurrence of exocrine and endocrine pancreatic insufficiency and pancreatic cancer risk is higher among patients with hereditary pancreatitis caused by PRSS1 mutations compared to those with either truly idiopathic pancreatitis, or pancreatitis associated CFTR or SPINK1 mutations.

Genetic diagnosis is also considered an effective tool for family-member risk stratification. Identifying family members at risk makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by healthcare professionals. Genetic diagnosis can also help in family planning.

We offer comprehensive genetic diagnostics for malformations. Our panels cover a broad spectrum of connective tissue and skeletal disorders. These syndromes can manifest as isolated defects, growth abnormalities, and malformations that are present in the entire body. Some of our panels target organ-specific disorders such as Hirschsprung disease and gastrointestinal atresias, cerebral cavernous malformations, and neurofibromatosis.

Genetic testing for malformations

— Panels Update

Our panels include over 2600 genes selected based on curated gene reviews, variant databases, most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.

In addition to many disorder-specific panels, larger disease groups are also targeted. Specifically, our Macrocephaly/Overgrowth Syndrome Panel and Microcephaly and Pontocerebellar Hypoplasia Panel are suitable for patients with abnormalities in skull structure and symptoms that substantially overlap with neurological diseases. Similarly, our Neuronal Migration Disorder Panel covers a broader set of genes related to holoprosencephaly, lissencephaly, and polymicrogyria. Additionally, our Comprehensive Skeletal/Malformation Syndrome Panel covers all genes included in the unique panels, providing maximal differential diagnostic power in the field.

— What can genetic diagnostics offer patients with gastroenterological diseases?

Genetic diagnostics is the most efficient way to subtype these diseases and provide the necessary information to make confident individualized treatment and management decisions. Moreover, identifying the causative mutation establishes the mode of inheritance within the family, which is essential for well-informed genetic counseling. Additionally, genetic diagnosis can help in family planning.

We offer comprehensive genetic diagnostics for a broad range of hematological disorders varying from bone marrow failure to specific disorders affecting various cell populations and factors involved in hemostasis. These include congenital defects in neutrophils, inherited disorders affecting platelets and platelet function, and a broad spectrum of red blood cell disorders.

Genetic testing for hematology

— Panels Update

Our panels include genes selected based on curated gene reviews, variant databases, most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.

We offer comprehensive genetic diagnostics for a number of disorders associated with hereditary cancer susceptibility. These cancer panels cover genes associated with cancer types originating from the gastrointestinal tract, the endocrine and neuroendocrine systems, different organs such as the lungs, kidneys, liver, pancreas, skin, and eyes, gathering the known genetic defects presenting early in childhood.

Genetic testing for hereditary cancer

— Panels Update

Our panels include over 2600 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.

We offer comprehensive genetic diagnostics for a broad range of inherited and congenital immunological defects, covering genes associated with known primary immunodeficiencies (PID).

Genetic testing for immunology

— Panels Update

Fast and reliable diagnosis of primary immunodeficiencies (PIDs) can be life-saving. Certain defects necessitate prompt stem cell transplantation to prevent organ damage caused by opportunistic infections and to avoid an inevitable fatal outcome associated with the natural course of the disease. Some PIDs require personalized follow-up and supportive care to improve the outcome of affected patients.

All defects causing bone marrow failure lead to severe immunosuppression and may necessitate stem cell transplantation as the preferred treatment. An increased risk of cancers is characteristic in almost all immunodeficiencies. Some immunodeficiencies, such as defects in the complement pathway, may also present later in life with characteristics related to an abnormal outcome of common infections.

>strong>What genetic diagnostics can offer patients with hereditary immunodeficiencies
Accurate genetic diagnosis of the immunodeficiency, combined with a detailed disease phenotype, is crucial in characterizing these rare diseases. It also improves treatment and follow-up strategies for affected patients and their family members. Identifying family members at risk makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by healthcare professionals. Genetic diagnosis can also help in family planning.