PATIENT INFORMATION CLINICAL INFORMATION TEST REQUESTED FIRST NAME MI LAST NAME MAIDEN NAME BIRTH DATE GENDER RACE ETHNICITY

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1 REQUEST FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA (HHT) TESTING Please provide the following information. We cannot perform your test without ALL of this information. PLEASE PRINT ALL ANSWERS PATIENT INFORMATION FIRST NAME MI LAST NAME MAIDEN NAME BIRTH DATE GENDER RACE ETHNICITY CLINICAL INFORMATION Patient currently has symptoms of HHT (please check the symptoms below): Telangiectasias, Locations(s) Nosebleeds, Frequency PAVM CAVM Liver AVM GI Bleeding Positive family history of HHT Juvenile polyps Positive family history (Please include a 3 generation pedigree) Patient is at risk for HHT or Juvenile Polyposis but is currently asymptomatic Has anyone in the family had DNA testing for HHT? NO YES; If yes: ICD-9 CODE(S): Name of person previously tested and relationship: Was the previous testing performed at the Genetic Diagnostic Laboratory? Yes Hereditary Hemorrhagic Telangiectasia Epistaxis (nosebleeds) Unspecified anomaly of brain, spinal cord, & nervous system Other capillary disease (telangiecasia) No Result (Please include a copy of the result): Other: TEST REQUESTED Full Sequencing of ENG and ACVRL1 on DNA isolated from blood WITH reflex to duplication/deletion analysis Full Sequencing of ENG and ACVRL1 on DNA isolated from blood with duplication/deletion analysis WITH automatic reflex to SMAD4 sequencing if negative Duplication/deletion analysis ONLY Screening for a known familial mutation of ENG: Sequencing mutation Delection/Duplication* Screening for a known familial mutation of ACVRL1: Sequencing mutation Delection/Duplication* Prenatal screening for a known familial mutation of ENG: Sequencing mutation Delection/Duplication** Prenatal screening for a known familial mutation of ACVRL1: Sequencing mutation Delection/Duplication** * Please include a copy of genetic result for affected family member for any familial or prenatal test requests. ** For all prenatal requests, please call the laboratory prior to sending a prenatal sample. Please refer to the special requirements for prenatal samples on the Instructions for Sample Submission page.

2 PATIENT REGISTRATION FORM Please provide the following information. We cannot perform your test without ALL of this information. PLEASE PRINT ALL ANSWERS PATIENT INFORMATION FIRST NAME MI LAST NAME BIRTH DATE GENDER STREET ADDRESS CITY STATE ZIP PHONE PHYSICIAN INFORMATION REFERRING PHYSICIAN PHONE FAX GENETIC COUNSELOR PHONE FAX ADDRESS FOR COUNSELOR ADDRESS FOR PHYSICIAN INSTITUTION AND DEPARTMENT STREET ADDRESS CITY STATE ZIP PAYMENT OPTIONS (must choose one) [a receipt will be mailed to the patient for self-pay options] I have enclosed a check payable to the Genetic Diagnostic Laboratory for $ Please charge my credit card for the amount of $ VISA Master Card Discover American Express Card Number: Exp date: Name of cardholder as it appears on card: I have Pennsylvania Medicaid. A copy of my Medicaid card is attached. INSTITUTIONAL BILLING: The Institution where my testing originated has agreed to pay all charges for the testing. INCLUDE Billing Address, Person Authorizing Payment, Telephone, and Fax below: BILLING ADDRESS BILLING ADDRESS NAME OF INDIVIDUAL AUTHORIZING PAYMENT PHONE FAX

3 VERIFICATION OF CORRECTLY IDENTIFIED BLOOD TUBES I am a participant in genetic DNA testing. I have been shown the tubes containing my blood for this genetic testing and my name has been correctly placed on each one of these tubes. I have signed a copy of the consent form regarding this genetic testing to be sent along with my blood samples. I have been given a copy of the consent form to keep. Participant Name: Participant/Parent Signature: Date:

4 INFORMED CONSENT: PROBAND GENETIC TESTING FOR HEREDITARY HEMORRHAGIC TELANGECTASIA (HHT) BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu disease, is a blood vessel disorder characterized by abnormal, direct connections between arteries and veins. Telangiectases are small abnormal blood vessels, which appear as red spots often found on the lips, tongue, fingers, intestines, or nose. Larger abnormal blood vessels, called arteriovenous malformations (AVMs), can occur in the internal organs, most commonly the lung, liver and brain. Bleeding telangiectases in the nose or intestines can be either a minor annoyance or a major medical problem, sometimes requiring transfusions. Undetected and untreated lung and brain AVMs are a significant cause of life-threatening or disabling complications in individuals with HHT. A large percentage of individuals with HHT carry a mutation in either the endoglin gene (ENG) (called HHT type 1) or the activin receptor-like kinase1 gene (ALK-1) gene (called HHT type 2). This consent form covers genetic analysis for only these two genes. PURPOSE: I, or my child, will be tested for alterations in the ENG and ALK-1 genes. I understand that the testing will take approximately weeks to complete. The purpose of this genetic testing is to determine whether I, or my child, have an altered HHT gene. Both men and women with an alteration in an HHT gene are at a significantly increased risk of developing telangiectases and AVMs. Individuals with HHT alterations can benefit from medical management specifically designed to minimize the complications of telangiectases and AVMs. TESTING PROCEDURE: Genetic testing requires several teaspoons (2 tubes) of blood (less for a very young child). Before the blood is drawn, I will watch as my name, or my child s name, is written correctly on empty blood tubes and after the blood is drawn I will sign a form indicating that I have positively identified the tubes containing the blood. The blood sent to the laboratory will be divided into two separate samples. The first sample will be used to complete the genetic testing. The second sample will be tested to confirm the diagnosis if the first sample indicates an alteration. There will be no additional charge for the confirmation testing. RISKS AND DISCOMFORTS: I understand that there is usually a minimal amount of risk involved in drawing a blood sample. These include pain at the blood drawing site, bleeding, bruising and infection. The risks of disclosure of information regarding my genetic susceptibility to hereditary hemorrhagic telangiectasia (HHT) include depression, anxiety, anger, and fear of the future. This result could affect my relationships with family members and loved ones. I understand that if I learn that I, or my child, have an altered HHT gene, my ability to obtain disability or life insurance could be affected. Certain health, disability and life insurance companies may consider an inherited HHT alteration to be a "pre-existing condition," and I may be responsible for disclosing this prior to obtaining new health or life insurance. I may learn that the results are inconclusive at the present time and that the laboratory was unable to determine whether I, or my child, have a clinically significant alteration. Page 1 of 4

5 ALTERNATIVE TO GENETIC TESTING: I understand that participation in this testing is completely voluntary and will not affect my or my child s medical treatment now or in the future. The alternative is not to undergo testing; in which case I will not learn whether I or my child has an altered form of an HHT gene. This decision is perfectly acceptable. RESULTS: When results of the laboratory testing are available, I will be given the option of postponing or declining disclosure of these results.. This decision is perfectly acceptable as well. I understand that there are three possible results to this testing: 1. I may learn that I, or my child, have a clinically significant altered HHT gene. I understand that this means that there is a high risk to developing clinical symptoms of hereditary hemorrhagic telangiectasia (HHT). 2. I may learn that the testing did not detect an altered HHT gene. I know that the methods currently in use might be unable to detect all mutations and I, or my child, may still have a DNA mutation that was not detected by the current technology. 3. The laboratory may detect an alteration in one of the HHT genes of currently unknown significance, called a variant of unknown significance (VUS). Our laboratory will work with your physician to help determine if the VUS can be further classified as to whether it is disease-causing for HHT. BENEFITS OF RECEIVING INFORMATION: This study may provide information about whether my relatives, including my children, are at high risk of developing hereditary hemorrhagic telangiectasia (HHT). If I am found to have a clinically significant alteration, I may choose to advise my relatives of this finding. They can have counseling and decide whether or not they wish to be tested to see if they inherited the same alteration. If I do have an altered gene, I will be able to initiate a comprehensive surveillance plan for the early detection of telangiectases and AVMs. It is the opinion of acknowledged experts in the field that enhanced surveillance will be of benefit to minimize complications from the clinical symptoms of HHT. If an alteration is detected in me, there is a 50% chance the alteration has been passed on to each of my children or will be passed on to any future children. LIMITATIONS OF DNA TESTING FOR HHT: I understand that the testing may not detect all of the alterations in these genes. I know that this means I, or my child, may have an alteration that will not be detected by the screening or I, or my child, may have an alteration in another HHT gene that has not yet been identified. No information pertaining to these genetic test results will be provided to anyone without my express written consent. No information will be provided to me by phone or mail from the University of Pennsylvania, regardless of the outcome. I understand that payment must be made for the genetic analysis of HHT regardless of whether a mutation is identified. I have discussed the options for payment with the laboratory or my physician, and arrangements have been made to fulfill my payment obligation. This DNA testing is often complex and utilizes specialized materials. While the testing is highly accurate for detection of the majority of disease causing mutations, a small fraction of mutations may be missed by the current technology. Due to the nature of the testing, there is a small possibility that the test will not work properly or that an error will occur. Occasionally, testing may reveal a variant of unknown significance that is unable to be definitively interpreted as positive or negative for disease-association based on our current knowledge of the variant. USE OF SPECIMENS: I understand that any blood or tissue specimens obtained for the purposes of this genetic testing become the exclusive property of the Genetic Diagnostic Laboratory. After the specific tests requested have been completed and reported, the Page 2 of 4

6 Laboratory may dispose of, retain, or preserve these specimens for research or for validation in the development of future genetic tests. In all circumstance described previously, my identity will be protected and research results will not be provided to me or to any other party. If use of this genetic material results in a scientific publication, it will not contain any identifying information. Indicate consent or denial to the above sentence by initialing below. My refusal to consent to research will not affect the reporting of my genetic results. I consent to the use of my DNA sample for future test validation and/or research purposes. I do not consent to the use of my DNA sample for future test validation or research purposes. In the event that my sample is used for research purposes, the Laboratory may wish to contact my physician/genetic counselor for additional information regarding my sample. This includes, but is not limited to, information on personal health and family history as it relates to the genetic testing. If there are new developments in the field, my physician/genetic counselor may be contacted by the Genetic Diagnostic Laboratory staff to offer me the opportunity to have additional clinical testing. Indicate consent or denial to the above sentence by initialing below. My refusal to consent to research will not affect the reporting of my genetic results. I consent to be contacted by the Laboratory in the future for research purposes. I do not consent to be contacted by the Laboratory in the future for research purposes. REQUEST FOR MORE INFORMATION: I understand that I may ask more questions about this testing and my results at any time. At the Genetic Diagnostic Laboratory, Lindsey Mighion, MS, CGC ( ) and Arupa Ganguly, PhD, FACMG ( ) will be available to answer questions as they arise. I will be given a copy of this consent form to keep. I have explained to the purpose of this genetic testing, the procedures required and the possible risks and benefits to the best of my ability. _ Printed Name of Professional Obtaining Consent Signature of Professional Obtaining Consent Date CONSENT OF PATIENT: I have read and received a copy of this consent form. I agree to have genetic testing and accept the risks. I understand the information provided in this document, and I have had the opportunity to ask questions I might have about the testing, the procedure, the associate risks and the alternatives. Printed Name of Patient Signature of Patient Patient s DOB Date Page 3 of 4

7 CONSENT OF PARENT OR GUARDIAN: I have read and received a copy of this consent form. I agree to have genetic testing performed for my child and accept the risks. I understand the information provided in this document, and I have had the opportunity to ask questions I might have about the testing, the procedure, the associate risks and the alternatives. Printed Name of Parent/Guardian Relationship to Child Signature of Parent/Guardian Child s Name Child s DOB Page 4 of 4