CENTOGENE review – Can it get a fast rare disease diagnosis?

7 Facts From our CENTOGENE Review

1. Location: Rostock, Germany
2. Products: Various types of genetic testing, from whole genome sequencing to single gene analysis
3. Cost: Varies by test. Not available online.
4. Reports: Waiting period depends on the type of testing you do
5. How it works: Order the custom CentoCard and then send your sample via mail
6. Raw Data Access: CENTOGENE gives you access to your raw data, but deletes it from its servers a month after your report is ready
7. Alternative Products: Nebula 30X Whole Genome Sequencing decodes all the information in your genome. Nebula reads over six million positions on your genome to provide reliable results to use in consultation with a medical professional

This review is written with the intent to be as unbiased as possible. However, it represents the opinion of an individual reviewer and is therefore subjective. Furthermore, at Nebula Genomics we seek to educate the public about the benefits of Whole Genome Sequencing. Information about our Whole Genome Sequencing DNA test is therefore incorporated into the review.

November 3, 2023

Pros and Cons

Pros

• Reliable diagnostics provided by professionals
• A large number of products
• Large database for diagnosis of rare diseases
• Usually covered by insurance

Cons

• Prices are not available online
• Patients must take the test through a doctor’s office
• There is an extra cost for the high-priority prenatal testing

Introduction

CENTOGENE is known as The Rare Disease Company, as its primary focus is the diagnosis and treatment of rare diseases. It pursues this through the analysis and research of genetics and how it ties into rare diseases. Through genetic analysis, CENTOGENE can diagnose nearly four thousand conditions, both rare and more common. Because the company focuses on advancing the field of rare diseases, it can often provide better solutions for patients experiencing such conditions.

Arndt Rolfs, a neurologist, founded CENTOGENE NV in 2006 to use genetics to treat people with rare diseases. Dr. Rolf’s experience with rare hereditary conditions as well as his drive to see advances in the diagnosis of rare illnesses, led to the company’s founding. CENTOGENE has since made great advancements in diagnosing rare conditions, cutting down the diagnosis period from an average of seven years to just a few days. Andrin Oswald is the current CEO of the company. 

CENTOGENE has a large genetic data repository, possibly the largest in the world, on rare hereditary diseases, with detailed information on genetics, phenotype, genotype, and other data to support the development of new treatments. The company headquarters are in Rostock, Germany, with more operations in Berlin and the United States (in Cambridge, Massachusetts).

CENTOGENE employees come from over 50 nations, making it a truly global company. 

The company is also developing pharmaceutical partners to further advance cures for many of the diseases it diagnoses. The pharmaceutical companies it works with have access to its large database and resources, including materials for patient screening and monitoring. The company also offers a clinical studies program to increase the clinical and genetic data necessary to better understand rare conditions. 

CENTOGENE Review

Review of CENTOGENE products

CENTOGENE is involved in diagnosing and treating newly discovered diseases. With a team of professionals on standby for consultation and a scientific advisory board, it aims to provide a system that eases the process of diagnosis and treatment of diseases. 

CENTOGENE provides a genetic testing platform with different diagnostic services for each patient’s needs. The company can analyze over 6,500 genes to account for nearly any genetic disorder. This diagnosis taps into CentoMD, the company database for mutated diseases, and several other sources worldwide to provide accurate diagnostic results.

CentoGenome

This is CENTOGENE’s whole-genome sequencing service. WGS goes through the entire genome region to discover any abnormalities in the DNA. This analysis can uncover most genetic variants that cause diseases.

CentoGenome is recommended for patients with a host of symptoms that make traditional diagnosis methods ineffective. It is also an option for patients who have had several rounds of diagnosis without any conclusive reports. The company advises patients who require speedy diagnosis to take advantage of whole-genome sequencing.

CentoXome

CentoXome is the whole-exome sequencing service provided by CENTOGENE. This sequencing scans the whole of the protein-coding sections of the genome and then compares it with a database containing an eighth of all disease-causing variants from around the world. CentoXome testing comes bundled with free support for life as well as discounted reanalysis in case you plan to test again. The company delivers CentoXome testing results within fifteen days if you opt for the fast turnaround option and thirty days for the standard one.

NGS Panels

This sequencing method is employed to diagnose conditions where many genes have to be analyzed. Next-Generation Sequencing uses research methods to reveal pathogenic variants in genome regions. CENTOGENE’s NGS Panels can diagnose diseases in the groups listed below.

A-K

• Cardiovascular: CENTOGENE has identified genetic variants in over a couple hundred genes leading to heart-related diseases. NGS helps detect these variants early enough to take action.
• Dermatology: A lot of different skin conditions have similar symptoms. Genetic testing can help single out the culprit in most skin diseases to make sure you treat the right disease.
• Dysmorphology: Birth defects and anomalies in patients can be pinpointed using gene testing.
• Ear, Nose, and Throat: Several inherited conditions lead to problems with the ears, nose, and throat, which CENTOGENE genetic testing can diagnose.
• Endocrinology: Hormonal disorders such as diabetes and obesity can be diagnosed, allowing for streamlined patient counseling and treatment.
• Hematology: Most diseases of the blood are genetic. Gene testing helps discover blood disease-causing variants in your genes to help tailor treatment for individual patients.
• Hepatology: Genetic testing easily sniffs out hereditary liver diseases to help treat these conditions. 
• Immunology: An exact diagnosis of immune-related conditions is needed to effectively treat patients. 

M-Z

• Metabolic Disorders: CENTOGENE has developed special diagnostic methods and medications to help discover and treat metabolic diseases effectively.
• Nephrology: Hereditary kidney diseases can now be diagnosed and treated due to recent advancements in genetic testing procedures.
• Neurology: Brain and spinal cord disorders need a precise diagnosis, which only genetic testing can offer, to effect sound treatment.
• Oncology: Genetic testing can make a difference in the diagnosis, treatment, and care of cancer patients.
• Ophthalmology: Experts have identified over three hundred and fifty genes related to eye diseases. Genetic testing helps identify the exact cause of a patient’s ophthalmologic disease. 
• Osteology: Hereditary bone conditions can be discovered to aid in the treatment of patients.
• Pneumology: Genetic testing facilitates the treatment of inherited respiratory illnesses
• Reproductive Genetics: Genetic testing can reveal information on reproductive issues such as infertility, helping people make the best decisions about family planning.

Single Gene Testing

The company advises single gene testing for patients with diseases resulting from variations in a single gene. Patients with a family history of a particular disorder can take advantage of single-gene testing. 

Biomarker and Biochemical Testing

A biomarker can measure the severity of a patient’s health condition, which can prove useful in treating it. This can be used to test the effectiveness of a medication or treatment. 

Prenatal Testing

In seven days, you will receive the results of single-gene prenatal tests. Fifteen days for NGS and WGS prenatal tests. Patients can obtain test results for prenatal tests early because they are prioritized over other testing processes. You also have access to support personnel who will answer all questions concerning the testing. 

Carrier Screening

Many people carry recessive genetic diseases that can become dominant in their children if their partner carries the same genes. 

CentoNIPT

This non-invasive prenatal test uses non-invasive methods to carry out tests on the fetus in the mother’s womb. This method of fetal testing is the safest and most reliable way to ensure the health and safety of a pregnant mother and her child.

Additional tests and services of interest include chromosomal microarray, mitochondrial genome, infertility, newborn, hereditary cancer, and somatic mutation testing.

Review of taking a CENTOGENE genetics test

Because CENTOGENE is a diagnostic company, a qualifying physician must order the test. Patients will first have a consultation with their doctor or a genetic counselor. If the medical professional determines you qualify for genetic testing, they will order the test from CENTOGENE on your behalf.

Doctors usually recommend genetic testing if you have a family history of a genetic disorder or are showing signs of developing one. It may also be recommended if you are pregnant or may become pregnant and are concerned about passing a genetic disorder to your children.

Typically, the test requires a blood sample collected on a CentoCard. Patients then send this card back via mail. However, the exact sample needed will depend on the test.

Once the CentoCard is delivered, your doctor will fill in your details and transfer your blood. They will wait two hours for the blood to dry and then mail your blood sample just as you would a regular letter. 

Review of CENTOGENE costs

Most insurance companies will pay for diagnostic genetic testing if a medical expert or genetic counselor recommends it. However, each situation is unique, and patients should contact their insurance company directly to confirm. If a patient is uninsured or unable to cover the cost, they may be eligible for the company’s no-cost research testing program. 

With this company, patients also have the option to pay out of pocket. Once the lab receives the sample, the patient will receive an invoice for the cost of the service. The company accepts PayPal and several major credit cards. The lab processes the sample once it receives payment.

Prices will vary depending on the type of test. The company does not make its prices available online. Patients or their doctors can contact the company directly.

Review of CENTOGENE Reports

You get your report in less than a month, regardless of your chosen testing method. Different tests, however, have different waiting periods. You have to wait a mere seven days for some test reports and up to 20 days for others. The company has various sample reports available on its website. 

Whole Genome Sequencing Report

There are two options for whole genome sequencing. If you opt for the fast option, you get your report in 15 days or less, while it can take up to 20 days for the regular option. The report includes detailed and professionally interpreted information on the patient’s clinical condition. It also recommends follow-up diagnosis and analysis. 

Whole Exome Sequencing Report

The reports for this diagnosis arrive in 15 or 30 days, depending on whether you go for the fast or regular option. It includes a detailed evaluation of the patient’s condition, recommendations, and phenotype-based findings.

NGS Panels Report

You get a report of all detected variants and a detailed explanation of the data collected. You also get a list of discovered pathogenic variants. 

Prenatal Testing

Prenatal testing is always a top priority; and therefore, you get your test report in as little as seven days, with a maximum turnaround of 15 days.

Other tests

Some diagnostic tests only analyze for a specific gene or genes known to cause disease. Patients normally perform these tests if they have a family history of a certain condition, such as breast cancer. 

Review of CENTOGENE Privacy

The company has an impressive privacy policy that covers data protection and HIPAA. 

“To support its mission of diagnosing and detecting, CENTOGENE uses Personal Data in the diagnosis of rare hereditary diseases, marketing of innovative products, partnering with health care professionals and researchers, and in relation to its Associates.”  

This means that the company collects and uses personal data in a way that supports its mission. It mainly uses this information to supply the patient or doctor with the services requested. CENTOGENE uses personal data to provide users with advertisements and other marketing.

Most personal data is protected under the EU’s GDPR, or General Data Protection Regulation. All users have the right to access, modify, or erase their data and report misconduct or revoke consent to having their data used.

The company is bound by all HIPAA regulations, meaning that it is required by law to keep your identifiable health information private.

CENTOGENE in the News

The company proudly supports events and days dedicated to raising awareness of rare diseases. In 2020, it endorsed International Gaucher Day through virtual events. In 2021, it played a role in Rare Disease Day in February by hosting a two-part virtual event, with a scientific conference program followed by the first international film festival on rare diseases. 

On June 22, 2021, the company held its first virtual investor event and set a bold mission to cure 100 rare diseases within the next decade. At this event, it revealed its strategic plans for priorities like research and development and improving access to care.

In July 2022, CENTOGENE announced a collaboration with LifeRaft Biosciences to develop companion diagnostics for rare diseases.

Other CENTOGENE Reviews

Since this private company works through doctors’ offices, there are few public reviews. CENTOGENE does share a number of testimonials from doctors and patients all over the world, mainly praising the company for its help with diagnosing rare diseases.  

Most of the negative reviews online, such as these from Trustpilot, are for the company’s COVID-19 testing in the form of a PCR kit. CENTOGENE has a few special testing centers in European airports for passengers needing a negative test before and after travel. For those returning, they had to produce a negative test 48 hours after their return. A majority of the negative reviews reported long waiting times.

Nebula Genomics

Nebula Genomics offers the most comprehensive DNA gene sequencing available in your own home. CENTOGENE is a diagnostics company. Therefore, your medical provider must approve and order the tests. Although Nebula is not a diagnostic company, its DNA sequencing and analysis are of the highest quality and can be used in consultation with a physician or genetic counselor. 

CENTOGENE’s focus is on rare diseases. It offers whole genome sequencing and various other products that decode different amounts of the genome. At Nebula Genomics, we perform whole genome sequencing, which decodes 100% of your DNA at a low price ($299 or less).

This gives you a highly detailed report of your ancestry, health, and diet. Our services are more general than those for rare diseases, so you can discover genetic predispositions to many conditions, from common ailments like high blood pressure to rare diseases like epilepsy. 

	CENTOGENE	Nebula Genomics
Sample collection	Proprietary dried blood collection card	Saliva
DNA testing method	Whole Genome Sequencing, Whole Exome Sequencing, Gene panels, Single gene analysis, etc.	Whole Genome Sequencing (30x coverage)
Ancestry testing	No	Deep ancestry reporting with full Y chromosome and mtDNA sequencing
Raw DNA download	No	Yes (FASTQ, BAM, and VCF files)
Compatible with other services	No	Yes
Report	A single report provided at the end of testing	Weekly genetic reports based on the latest research and data (learn more)

Other companies

GeneDx and Dante Labs are other diagnostic companies that specialize in rare diseases. Some biotechnology companies you may be interested in using genomics to develop novel therapies are:

• Deep Genomics (CNS and metabolic disorders)
• Verge Genomics (neurogenerative disorders)

Other clinical diagnostic companies, many of which include panels for rare diseases, are available.

Diagnostics and disease risks:

• ActX (integrates genomics into physician workflow)
• Ambry Genetics (risks of various disease types)
• Color (risks of cancer, genetic forms of heart disease, and medication responses)
• Fulgent Genetics (comprehensive diagnostic company)
• Map My Gene (innate talents for children and disease risks)
• Oral DNA Labs (specialized diagnostic tool for oral health)
• Parsley Health (holistic medicine and health plans)
• Pathway Genomics (DNA tests for various health aspects, may be used in consultation with medical providers)

Includes carrier status:

• Integrated Genetics (pre- and post-pregnancy tests)
• Invitae (diagnostics, proactive health, and reproductive health)
• Myriad Genetics (diagnostics, reproductive tests, and precision medicine tests)
• Sema4 (oncology, women’s health, carrier screening, and hereditary cancer)
• Veritas Genetics (disease risks and carrier screenings)

Mental health:

• GeneSight (clinical genomic test for psychotropics)
• Genomind (pharmacogenomic testing for mental health treatment)

Tumor genetics for personalized treatment:

• Decipher Biosciences (tumor genetics for urologic cancers)
• Foundation Medicine (genetic analysis on solid tumors)
• Tempus (oncology, mental health, and infectious disease treatment)
• Natera (circulating DNA for hereditary cancer and other diagnoses)

Did you find our CENTOGENE review helpful? You can read more reviews on our blog and our complete guide to the best DNA test kit and other home tests.