Department of Clinical Genetics, Skin and Allergy Hospital
Keywords:- Skin and Allergy Hospital
- medical genetics
- genetics
- prenatal diagnostics
In the Department of Clinical Genetics, we treat patients who are suspected of having a hereditary disease, investigate diseases being inherited in the family and provide counseling. Our department is located in the Skin and Allergy Hospital.
Contacts
Nurses
Please contact us first and foremost by calling the genetics nurses during their telephone hours or send a message via the Maisa portal. If you are contacting us about an urgent cancellation, you may also call the office.
Phone, Nurses: 09 4717 3310Specialist consultations, outpatient clinic
(not intended for patients)
Phone, Specialist consultations, outpatient clinic: 050 465 4659Genetics laboratory, office
(not intended for patients)
Phone, Genetics laboratory, office: 09 471 74339Treatment with us primarily requires a referral. In certain cases, you can contact us directly. We treat both children and adults.
Depending on the matter, we will arrange a telephone call, a video appointment, or a regular appointment. Please see the frequently asked questions for more information on handling your matter, and preparing for the appointment. The questions have been divided according to the reason why you have sought treatment.
Your physician may suggest chromosome or genetic tests, which we usually do from blood samples.
Our medical geneticists also conduct ward consultations if necessary. A medical geneticist from the Department of Clinical Genetics also works in cooperation with perinatologists at the Prenatal Diagnostic Unit of the HUS Women's Hospital.
Arriving at our department
The unit is located on the 5th floor of the Skin and Allergy Hospital. Please arrive at the outpatient clinic’s waiting room approximately 15 minutes before your scheduled appointment. Your personal information will be checked when you register. Please bring with you your Kela card and proof of identity, and if your child is the patient, also the child’s health clinic card (neuvolakortti).
Please reserve 1 to 2 hours for your appointment and the possible related examinations.
If you have been requested, or you receive a request, to give a blood sample for genetic testing, you can have it taken at any of the HUSLAB sample collection sites. You do not need to fast for the test, and you can have the sample taken with or without appointment.
Cancelling or rescheduling an appointment
If the appointment scheduled for you is not suitable, please telephone us as soon as possible or at least a week before the appointment. You can change a scheduled appointment only once for a valid reason.
Pediatric patients
The referring physician has evaluated that you would benefit from a genetic counseling appointment. Your child is suspected of having a rare disease or at least an evaluation is required of whether it could be a question of a rare disease.
In some pediatric patients, a rare syndrome is suspected, and some need a diagnosed reason for a structural abnormality. Special characteristics related to development are also a common reason for referring a patient for a genetic counseling appointment.
The medical geneticist will try to determine the exact cause of the disease. If we find out the reason, there is a possibility for obtaining information on the prognosis. In addition, the pathogenetic mechanism of the disease and the risk of recurrence in future pregnancies and in the family circle will be examined. If a chromosome or gene defect is known, it will enable fetal and embryo diagnostics in future pregnancies.
Both parents should accompany the child to the appointment.
Your child will be examined by a medical geneticist. The medical examination is similar to a medical examination conducted by a school physician and includes careful examination of the child’s external appearance. Often the patient and his or her family are photographed, if the case regards an evaluation of a potential syndrome. The photographs will only be retained for the use of the treating physicians and for storage in the patient information system.
Your physician may suggest gene or chromosome tests, which are usually done from blood samples. These tests do not require fasting. A family tree is drawn at the appointment; and it is a good idea to consider in advance whether there have been similar symptoms/diseases observed in the family as the patient is currently experiencing. It is also good to have information available at the appointment on other diseases observed in the family.
If pregnancy begins during the wait for an appointment, you may choose to call the HUS Prenatal Diagnostic Unit (tel. 09 4717 3601) yourself, where it is possible to consider whether some specific examinations, i.e. gene or chromosome tests or ultrasound examinations, should be conducted.
Our unit has very long waiting lists. We apologize for the bad waiting list situation. In addition, it may take some months for the results of the gene and chromosome tests to come back, which also contributes to the long waiting lists.
Once our department has received the referral, it will take several months before you get an appointment in non-urgent cases. Urgent matters are dealt with faster. If gene or chromosome tests have been requested for the child or parents in advance by telephone, you will hear their results from your physician during the appointment. A nurse cannot give them in advance by phone.
Persons seeking evaluation due to their own cancer or cancer cases occurring in the family
You are waiting for an appointment at the Department of Clinical Genetics, either because of your own cancer diagnosis or cancer cases occurring in the family. Below are frequently asked questions from patients who have been requested to have an assessment of the possibility of hereditary cancer susceptibility.
If your family has not been previously tested in the HUS Department of Clinical Genetics or another genetics clinic, you should request a referral from your physician to our department. You can request a referral, for example, from your health center, private physician, occupational health care or a specialist medical outpatient clinic.
If your family has already been tested in the HUS Department of Clinical Genetics or another genetics clinic, you can call the relevant unit directly. When contacting our nurses, you need to provide the name and personal identity code of the relative who has visited our department. It is recommended that you have a discussion with your relative on the genetic defect your family is dealing with.
An appointment at our department will cost you the outpatient clinic fee. The conducted genetic tests are not charged separately.
If a genetic defect has not yet been detected in your family, but you think there are many people with cancer, any gene testing of the family will be begun on the person with cancer. If there are several people with cancer, the studies are often started with the youngest patient. He/she should request a referral to our unit (question 1).
If he or she has died or does not want to participate in any tests, you can request a referral for yourself. If a genetic defect has been detected in your family, refer to the first question.
If you are healthy, there is a genetic defect in your family and you are at risk of being a carrier of a genetic defect, you may be offered proactive genetic testing. If you are diagnosed with a genetic defect, referrals will be made for you to attend follow-up at units of further treatment. If you have cancer, the genetic test is diagnostic and may affect your follow-ups. Your relatives at risk may seek genetic counseling and possible genetic testing if they so wish.
The permission form is required in order to obtain the medical records pertaining to you. The permission is granted and signed by the adult patient/person him-/herself. Your relative has asked you to fill out the form, because without your written consent we will not be able to read/order your medical records. We will only order information relevant to the treatment. Due to patient data protection, our department may not contact you directly. The material will only be accessed by persons who will be treating your family. Your information will not be passed on to, for example, your relatives.
The duration of the waiting time depends on several factors. The main reason is the large number of patients in our department. Collecting family data and assessing the family’s situation on the basis of the data is time-consuming. If necessary, we may also request additional information about your family.
Genetic testing is not comparable with conventional (e.g. blood counts) laboratory tests, but can take several months to analyze. Our department will contact you once your results have arrived.
Your genetic test results will be shown on the My Kanta Pages after you have received the results from a medical geneticist in person.
Access to treatment is influenced by many personal issues (e.g. which your relative has not wanted to disclose to others). The urgency will be assessed by a physician. If your relative has been on a waiting list for another genetics clinic, please note that waiting times vary from one outpatient clinic to another. Please remember to inform us, if your relative has been examined in our department or in another genetics clinic.
The family data form is a tool for the physician. Fill out the form in as much detail as possible. If you are not in contact with your family, fill out the form with the information that you have. It is important that you return the form in time and mention if there is information about your family which is not available.
Incomplete information does not prevent the physician from making an assessment. Based on the data in the family data form, the physician will assess your family's situation with regard to cancer. Please note that your physician can comment on your situation by phone, letter or at the appointment.
We will need the information in the family data form to draw the family tree. We ask that you include the people with the same disease or other illnesses and also all healthy relatives in the family data form. Record the name, date of birth, illness, and time of death for deceased relatives in the form. For the healthy relatives, no date of birth or time of death is needed. Their names are sufficient.
We only need permission forms from the relatives with the same illness or similar symptoms as yours. Permission forms are required so that we can order your medical records and those of your relatives. Due to the Data Protection Act, our department may not contact your relatives. You will need to obtain the permission forms from your relatives yourself. The permission is granted and signed by the adult patient or person him-/herself. For a deceased person, permission is granted by the next of kin. If it is difficult to obtain permission from family members, it is sufficient to mention the deceased person’s full name, date of birth, time of death, municipality of residence at time of death and where he or she may have been treated.
Adult patients: questions related to other matters than cancer
If your family has not been previously tested in the HUS Department of Clinical Genetics or another genetics clinic, you should request a referral from your physician to our department (for example, you can request a referral from your health center, private health services, occupational health care or a specialist medical outpatient clinic).
If your family has already been tested in the HUS Department of Clinical Genetics or another genetics clinic, you can call the relevant unit directly. When contacting nurses, you need to provide the name and personal identity code of the relative who visited our department. It is recommended that you have a discussion with your relative on the genetic defect your family is dealing with.
If your family has not been previously tested in the HUS Department of Clinical Genetics or another genetics clinic, you should request a referral from your physician to our department (for example, you can request a referral from your health center, private health services, occupational health care or a specialist medical outpatient clinic).
If your family has already been tested in the HUS Department of Clinical Genetics or another genetics clinic, you can call the relevant unit directly. When contacting nurses, you need to provide the name and personal identity code of the relative who visited our department. It is recommended that you have a discussion with your relative on the genetic defect your family is dealing with.
An appointment at our department will cost the outpatient clinic fee. The conducted genetic tests are not charged separately.
If you are healthy, there is a genetic defect in your family and you are at risk of being a carrier of a genetic defect, you may be offered proactive genetic testing. If you are diagnosed with a genetic defect, referrals will be made for you to attend follow-up at units of further treatment.
Seek genetic testing well in advance of planning a pregnancy. The process (queuing in the waiting list and completion of results for possible genetic tests) will take several months. If you are already pregnant, contact the Prenatal Diagnostic Unit (tel. 09 471 73601/midwives) or the Department of Clinical Genetics (tel. 050 432 7111).
The permission form is required in order to obtain the medical records pertaining to you. The permission is granted and signed by the adult patient/person him-/herself. Your relative has asked you to fill out the form, because without your written consent we will not be able to read/order your medical records. We will only order information relevant to the treatment. Due to patient data protection, our department may not contact you directly. The material will only be accessed by persons who will be treating your family. Your information will not be passed on to, for example, your relatives.
A sufficient amount of time should be reserved for the appointment (approx. 1 h). The appointment will cover diseases in your immediate family, possible genetic testing and its relevance to you and your family. No procedures will be conducted during the appointment. A possible genetic test means taking an ordinary blood test that does not require any preparations in advance.
The duration of the waiting time depends on several factors. The main reason is the large number of patients in our department. Collecting family data and assessing the family’s situation on the basis of the data is time-consuming. If necessary, we may also request additional information about your family.
Genetic testing is not comparable with conventional (e.g. blood counts) laboratory tests, but can take several months to analyze. Our department will contact you once your results have arrived.
Your genetic test results will be shown on the My Kanta Pages after you have received the results from a medical geneticist in person.
Access to treatment is influenced by many personal issues (e.g. which your relative has not wanted to disclose to others). The urgency will be assessed by a physician. If your relative has been on a waiting list for another genetics clinic, please note that waiting times vary from one outpatient clinic to another. Please remember to inform us, if your relative has been examined in our department or in another genetics clinic.
The family data form is a tool for the physician. Fill out the form in as much detail as possible. If you are not in contact with your family, fill out the form with the information that you have. It is important that you return the form in time and mention if there is information about your family which is not available. Incomplete information does not prevent the physician from making an assessment. Based on the data in the family data form, the physician will assess your family's situation with regard to the disease at hand. Please note that your physician can comment on your situation by phone, letter or at the appointment.
We will need the information in the family data form to draw the family tree. We ask that you include the people with the same disease or other illnesses and also all healthy relatives in the family data form. Record the name, date of birth, illness, and time of death for deceased relatives in the form. For the healthy relatives, no date of birth or time of death is needed. Their names are sufficient.
We only need permission forms from the relatives with the same illness or similar symptoms as yours. Permission forms are required so that we can order your medical records and those of your relatives. Due to the Data Protection Act, our department may not contact your relatives. You will need to obtain the permission forms from your relatives yourself. The permission is granted and signed by the adult patient or person him-/herself. For a deceased person, permission is granted by the next of kin. If it is difficult to obtain permission from family members, it is sufficient to mention the deceased person’s full name, date of birth, time of death, municipality of residence at time of death and where he or she may have been treated.
Persons seeking treatment during pregnancy
Genetic counseling related to a current pregnancy is provided at the Fetomaternal Medical Center, which operates in connection with the HUS Women's Hospital. The center has a medical geneticist present every day
You can seek genetic counseling at the Prenatal Diagnostic Unit either on a referral from a prenatal clinic (neuvola) or by contacting the HUS Prenatal Diagnostic Unit by telephone (09 4717 3601). Please note that if the case concerns a hereditary disease that has been diagnosed with a spouse or relative, we need the name and social security number of the person concerned. The person concerned must also give his or her consent to the examination of his or her medical records.
We will discuss referrals arrived for prenatal diagnostics and the contacts by pregnant patients on a weekly basis at the unit’s joint referral meeting, which is usually held on Mondays. After the meeting, the midwife will notify you by phone of a follow-up plan. We do not invite all expectant mothers for an appointment, but, depending on the situation, we can send a letter of advice by post or offer a possibility for guidance via telephone. The timing of the appointment depends on the weeks of pregnancy and the schedule of examinations that may be offered to you.
If a medical geneticist considers that the expected child is at increased risk of a hereditary disease, additional examinations may be carried out according to the physician’s assessment. These may include placental biopsy or amniotic fluid sampling, a NIPT test from the mother’s blood sample, a more detailed ultrasound examination or fetal magnetic resonance imaging. Sometimes examinations are also conducted using the parents’ own blood samples. The examinations are always voluntary. If necessary, further examinations may also be carried out after childbirth or possible abortion.
If a severe disease is diagnosed in the fetus, we will try to provide your family with as much information as possible about the nature, treatment options and prognosis of the disease. If necessary, we will arrange for an opportunity to discuss matters with a specialist experienced in the disease in question, for example, a pediatric neurologist or a pediatric surgeon. If a serious disease or abnormality has been established in the fetus, artificial termination of the pregnancy is possible if the pregnancy has lasted less than 24 weeks. Prior to reaching 20 weeks of pregnancy, an artificial termination of pregnancy is also possible, if there is a serious suspicion of fetal disease, even if an exact diagnosis has not yet been made. If you make the decision to continue with the pregnancy, we will give you instructions on how to monitor the rest of the pregnancy, the method and place of delivery and any examinations to be performed on the newborn.
As a rule, we only provide guidance related to an ongoing pregnancy at the Prenatal Diagnostic Unit. If you have already been scheduled to have prenatal diagnostic examinations via the Prenatal Diagnostic Unit, you may be provided with an appointment for reviewing the results, if necessary. Otherwise, the medical geneticist of the Prenatal Diagnostic Unit can make a non-urgent referral to the Department of Clinical Genetics.
Gene testing during pregnancy is usually only possible when a specific genetic defect in a family is known. As a rule, examinations are carried out first for the parents and fetal studies are considered only after the parent has been found to be a carrier of a genetic defect. If a genetic defect in the family is known and it is relevant to the ongoing pregnancy, examinations to find out whether the parents are carriers can be scheduled by the Prenatal Diagnostic Unit. In this case, it is worth noting that examinations usually take several weeks even when ordered as urgent. If a genetic defect in a family is not known, it is generally not possible to diagnose it on a timeframe which would have an impact on the current pregnancy.
Genetic testing is not comparable with conventional (e.g. blood counts) laboratory tests, but can take several months to analyze, depending on the extent of the gene tests. Sometimes ensuring of the significance of the result may also require examination of samples from other family members or relatives, for example. Therefore, we recommend that you seek genetic counseling if possible already before a pregnancy is planned.
Comprehensive family data is an important tool for our medical geneticists. We usually always try to verify the health information of relevant family members from their original medical records. In order to order the data, we need a consent from the adult family members. The lack of information as such is not an obstacle to providing counseling, but prenatal diagnostic examinations are mainly provided only for diseases in families who are able to provide reliable health documents
Our medical geneticists at the Prenatal Diagnostic Unit also operate in the HUS Department of Clinical Genetics and have full access to all electronic data in the unit. However, medical records older than 10 years and, for example, relatives’ data are generally not available in electronic form, but need to be ordered separately with the consent of the patient from the archives of the Department of Clinical Genetics. This may take a few days. The same applies to a situation where examinations have been conducted in the medical genetics unit of another university hospital.
The client of the genetic counseling at the Prenatal Diagnostic Unit can only be the pregnant woman or her spouse. If counseling also requires your child to be examined, we will examine him or her at the Department of Clinical Genetics, where we can arrange an urgent appointment, if necessary.
Alternatively, the medical geneticist of the Prenatal Diagnostic Unit may provide you with advice to the extent possible on the basis of your child’s medical records; in this case, we will make a non-urgent appointment at the Department of Clinical Genetics for conducting the child’s relevant examinations.
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