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Benefits of Genetic Testing

Genetic testing can provide clarity and a firm diagnosis, guide therapy selection and monitoring, and allow disease risk profiling.

What Is Genetic Testing?

Genetic testing is a type of medical test that identifies changes in the DNA sequence, which we can pass on to our children. These changes in our DNA, called “pathogenic variants,” can manifest in disease. Genetic tests can detect such variants and confirm a disease diagnosis.

DNA is the genetic material in our cells that serves as the blueprint for our unique features. It carries the instructions that enable our body to perform various functions. Several different methods exist to quicky and reliaby test our DNA; sequencing and deletion/duplication analysis are the most common. Biochemical/multiomic testing can also often aid in diagnosing disease earlier and can also enable continuous therapy monitoring, especially in lysosomal storage disorders.


Distinctive product offering centered around high-quality genetic testing

Strong presence in and access to countries with a high prevalence of rare diseases

CentoCard provides easy logistics for central testing

Rare disease-centric Bio/Databank generates best-in-class medical insights

Deep expertise in rare, metabolic, and neurodegenerative diseases, as well as multiomics enables better diagnostics

Transparency and Quality of Medical Reports

We strive to build a partnership of trust. Our test data is validated and interpreted by our experienced medical experts. Our medical reports contain comprehensive information about any detected variants.

Medical Reporting

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Reliable Diagnosis Through Dynamic Variant Classification

We are committed to helping rare disease patients throughout their lives. We systematically re-evaluate past variant classifications and inform patients in the event of a reclassification.

Variant Reclassification Program

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CentoCard®, Life-Saving Diagnostics Made Simple

Using our unique dried blood spot (DBS) technology, we have simplified collecting and shipping patient samples. Genetic testing is made available anywhere in the world.


Visit Our Online Ordering Portal

CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

Go to CentoPortal

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What Are the Benefits of Genetic Testing?


Accurate Diagnosis

For a lot of disorders, genetic testing is the only way to make an accurate diagnosis and help avoid additional unnecessary clinical investigations.


Most Suitable Therapy and Support

Genetic testing can guide the clinician in choosing the most suitable therapy and support for the patient.

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Patients and Families

A definite diagnosis can be a great relief to patients and families, especially if they have been searching for the answer for long time.

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Patient’s Life

For some genetic diseases, like hereditary cancer, advanced monitoring and early intervention may save a patient’s life.

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Family Planning

The results of genetic testing may be useful for future family planning.

At CENTOGENE, We Perform the Following Types of Genetic Testing in House

  • Hotspot testing – only tests for a few most common mutations
  • Single gene sequencing – sequencing of the entire gene
  • Deletion/duplication testing – longer stretches of missing or extra genetic material
  • Repeat expansion analysis (fragment length analysis) – looks at repeats of nucleotide motifs
  • Next generation sequencing (NGS) panels – sequencing of groups of genes at once
  • Whole exome sequencing (WES) – sequencing of all our genes (20,000) at once
  • Whole genome sequencing (WGS) – sequencing of our complete genome including genes and the non- coding sequence (20,000) at once

The accuracy of genetic test results is paramount. Major life decisions are often based on genetic test results. Genetic testing should only be performed by accredited, high quality labs that regularly take part in external quality assurance schemes. Ideal patient care involves pre-and post-test genetic counseling to explain the range of options and possible outcomes.

What Are the Different Types of Genetic Testing?

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Diagnostic Testing

is offered to patients to identify genetic mutations that may be causing symptoms and to confirm or rule out a diagnosis.

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Predictive Testing

is useful for people with no symptoms but who have a probability of carrying a mutation and developing symptoms later in life.

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Carrier Testing

for people with a family history of a disease and would like to know their risk of developing the disease or the risk of passing it to children.

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Prenatal Testing

for women planning a pregnancy, or already pregnant, who have a known risk for having a child with a genetic disorder.

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Downloads & Resources

CENTOGENE NGS Panel Brochureposter English PDF

NGS Panels

Benefit from our medical expertise and streamlined genetic testing

Get in Touch With Our Customer Support

Our consultation service is available in several languages.

+49 (0) 381 80 113 - 416

Mon. – Fri. 7 a.m. – 8 p.m. CEST

Sat. 8 a.m. – 12 p.m. CEST

Contact Us

For our US Partners:

+1 (617) 580 - 2102

Mon. – Fri. 9 a.m. – 5:30 p.m. EST

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