Genetic consultation provides information for decisions on genetic testing
An online genetic consultation aims to assist patients in making informed choices concerning the disease in question, their health, or their child’s health, respectively. To what extent genetic consultations and diagnostics may be helpful depends on the particular disorder and the patients’ personal specific questions. Both will define the topics in the consultation and the kind of genetic testing proposed. In the event of information being obtained during the consultation pointing to additional genetic issues the patients haven’t been aware of yet, we will discuss their options. It remains the patients’ personal decision if and to which extend to proceed with a possible genetic diagnostic strategy.
We offer online genetic consultation services mainly for issues related to:
- Pediatric Genetics (childhood genetic disorders and syndromes)
- Oncogenetics (cancer genetics)
- Reproductive Genetics
- Neurogenetics
Of course, we are happy to assist patients with all questions they might have on any other genetic issues.
The online genetic consultation services include an initial video session with a consultant clinical geneticist as well as follow-up sessions on a case to case basis if needed, followed by a comprehensive Medical Genetics Report containing the most important topics of the consultation and the relevant findings, including all lab results.
General information
Genetic consultations with a clinical geneticist usually comprise:
- the clarification of the patient’s personal reasons, motivation, and purpose for the consultation,
- a structured medical and family history including,
- an assessment and evaluation of all medical reports and results to date,
- an assessment of physical findings and pictures were taken for diagnostic purposes, if applicable,
- initiating the genetic lab investigations/ testing,
- an assessment of specific genetic risks,
- a detailed Medical Genetics Report with the relevant findings, including all lab results,
- explaining possible health consequences and/ or treatment options, respectively.
Previous medical findings, clinical symptoms to date as well as family history are a prerequisite for any genetic consultation.
About Dr. Schell-Apacik
Chayim Schell-Apacik, M.D., is a clinical geneticist, focusing on Paediatric Genetics, Oncogenetics, Reproductive Genetics, and Neurogenetics.
Secure data transmission with our FTAPI platform:
FTAPI is a German software provider that stands for simple and secure data exchange. Thanks to FTAPI SecuPass technology with automatic key exchange is also conveniently end-to-end encrypted.
Step 1: Fill out the questionnaire and save it.
Step 2: Generate an FTAPI sublink.
Step 3: Upload all relevant documents (questionnaire, images, medical findings, etc.).
Step 4: Click the send button.
The procedure of the online genetic consultation
1. Registration:
You have registered an interest in an online genetic consultation. We are happy to assist you with all questions you might have on genetic issues.
2. Fill In Questionnaire:
Please fill in a questionnaire and provide as much information as possible in advance. Use the FTAPI platform to send your data securely.
3. Online Consultation:
After evaluating the submitted documents, you will receive a quotation. After payment (advance invoice), we will contact you to schedule an online genetic consultation appointment. Duration of the initial session: ca. 1.5 hours
4. Send DNA Sample:
If you are interested in genetic testing after the initial consultation session, your physician can draw the blood samples required and send them to CeGaT.
5. Medical Report:
After completing genetic diagnostics, you will receive a Medical Genetics Report from the Clinical Geneticist containing your laboratory results and all relevant findings, and the genetic consultation results.
Paediatric Genetics
Reasons for genetic consultation in the field of pediatrics
Genetic defects can be causative for many diseases in childhood. These include abnormalities in a child’s appearance (phenotypic anomalies), developmental delay or mental retardation, autism, speech delays, congenital hearing, and visual impairments, as well as congenital metabolic disorders or congenital neurological and muscular disorders. With the correct diagnosis, it is possible to start therapy or support for the child at an early stage. In addition, the concomitant diseases that often accompany a syndrome can be detected and treated. With the help of genetic consultation, parents can also assess whether other children are also at risk of developing the disease.
We offer genetic consultation, testing, and diagnostics in all cases of suspected genetic disorders.
In addition to the points mentioned above, pediatric genetic consultation and diagnostics also include examining the blood of both parents (if available). CeGaT offers a large variety of genetic tests, more details: Genetic diagnostics overview.
Required documents and information
We kindly ask you to send us the following documents in advance by FTAPI platform:
- completed questionnaire for pediatric genetics
- all available medical reports/documents/examination results, including documentation of the child’s birth and development to date
- standard photos of your child, for documentation and diagnostic purposes (see image on the right).
If there are any additional abnormalities (e.g., dark or light spots, skin tags, dimples, etc.), please send us additional pictures.
Oncogenetics
Reasons for genetic consultation in the field of oncogenetics
The development of various types of cancer (e.g. breast cancer, ovarian cancer, colorectal cancer, pancreatic cancer, thyroid cancer, multiple endocrine neoplasms, retinoblastoma), as well as the occurrence of multiple intestinal polyps, can be attributed to a genetic cause. Affected individuals with cancer syndrome have an increased risk of developing other tumors, such as contralateral breast cancer, ovarian cancer, colon cancer, kidney cancer, or uterine cancer. Likewise, relatives of an affected person may have an increased risk of developing a tumor. We offer genetic consultation, testing, and diagnostics in all cases of suspected hereditary cancer syndrome.
Genetic consultation and diagnostics in oncogenetics usually comprise all of the topics mentioned above. Click here for more information about our Tumor Diagnostics.
Required documents and information
We kindly ask you to send us the following documents in advance by FTAPI platform:
- completed questionnaire on oncogenetics
- all available medical reports/documents/examination results, including histological findings (histology report).
Reproductive Genetics
Reasons for genetic consultation in the field of reproductive genetics.
In couples with problems getting pregnant or in couples with habitual spontaneous abortions, a genetic cause should be considered. In these cases, fertility treatment and in vitro fertilization (IVF, ICSI) is often performed. A genetic cause may also be responsible in cases of couples with pregnancy complications and fetal anomalies. We offer genetic consultation, testing, and diagnostics for couples with fertility problems and habitual spontaneous abortions, as well as fetal anomalies in prenatal diagnostics.
Genetic consultation and diagnostics in reproductive genetics usually include all of the above issues for both partners. Click here for more information about our Panel for Fertility.
Please note that genetic consultation and diagnostic in reproductive genetics is usually a couple’s appointment, which means that both partners are involved.
Required documents and information
We would like to ask you to send us the following documents in advance by FTAPI platform:
- completed questionnaire on reproductive genetics
- all available medical reports/documents/examination results of both partners, including previous therapies and reproductive strategies
Neurogenetics
Reasons for genetic consultation in the field of neurogenetics
A genetic cause may be considered in the development of different neurological disorders (e.g., Hereditary Motor and Sensory Neuropathies (HMSN), Hereditary Spastic Paraplegia (HSP), Muscular Dystrophies (such as Duchenne, Becker), Hereditary Muscular Atrophies (such as SMA), Fragile X-Associated Tremor-/Ataxia Syndrome (FXTAS), Fragile X-Associated Neuropsychiatric Disorders (FXAND), Spinocerebellar Ataxias, Chorea Huntington, epilepsy syndromes)
We offer genetic consultation, testing, and diagnostics in all cases of a suspected hereditary neurological or muscular disorder as well as epilepsy syndromes. Click here for more information about our genetic diagnostics panels.
Required documents and information
We kindly ask you to send us the following documents in advance by FTAPI platform:
- completed questionnaire on neurogenetics
- all available medical reports/documents/examination results, including histological findings (histology report).
Any Other Genetic Issue
Of course, we are happy to assist you with all questions you might have on any other genetic issues. Should you wish to register interest in an online genetic consultation regarding any other genetic issues, we kindly ask you to send us the following documents in advance by FTAPI Submitbox: completed questionnaire on any other genetic issue all available medical reports/documents/examination results, including histological findings (histology report). Of course, we are happy to assist you with all questions you might have on any other genetic issues. Should you wish to register interest in an online genetic consultation regarding any other genetic issues, we kindly ask you to send us the following documents in advance by FTAPI Submitbox: completed questionnaire on any other genetic issue all available medical reports/documents/examination results, including histological findings (histology report). Of course, we are happy to assist you with all questions you might have on any other genetic issues.
Should you wish to register interest in an online genetic consultation regarding any other genetic issues, we kindly ask you to send us the following documents in advance by FTAPI platform:
- completed questionnaire on any other genetic issue
- all available medical reports/documents/examination results, including histological findings (histology report).
Contact Us
Dedicated Support
Together with you, we will determine which examinations are necessary in your individual case and support you in weighing possible risks and therapy options.
