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

Transcription

1 REQUEST FOR NON-SYNDROMIC PORT-WINE STAINS AND STURGE-WEBER SYNDROME 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 Has this patient been diagnosed with Sturge-Weber syndrome (SWS)? No Yes Has this patient been diagnosed with a syndrome besides SWS? No Yes If yes, please describe: Does this patient have a port wine stain? No Yes ICD-9 CODE(S): Sturge-Weber syndrome Port-Wine Stain(s) Other: Additional clinical symptoms: TEST REQUESTED Point mutation analysis of c.548g>a in GNAQ in skin and/or blood samples

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 FOR NON-SYNDROMIC PORT-WINE STAINS TESTING AND STURGE-WEBER SYNDROME Background: Non-syndromic port-wine stains are congenital capillary malformations, often referred to as birthmarks. Port-wine stains have a red, patchy appearance and typically grow as the child grows. The incidence of port-wine stains is approximately 3 out of every 1000 births. Children who are born with a facial port-wine stain have a 6% chance of having Sturge-Weber Syndrome. Sturge-Weber syndrome (SWS) is a sporadic congenital disorder characterized by neurological (nervous system) and cutaneous (skin) symptoms. In addition to facial port-wine stains, children with SWS can present with other capillary malformations, seizures, glaucoma, and intellectual disabilities. The incidence of SWS is approximately 1 in 20,000 to 50,000 births. Heterozygous mutations in the GNAQ gene at c.548g>a (p.arg183gln) have been identified in affected skin samples (skin samples from an area affected with a port-wine stain) from patients with SWS in 100% of cases and in patients with non-syndromic port-wine stains in 92% of cases. It is possible that patients with port-wine stains or other features of SWS may not carry the GNAQ c.548g>a mutation. Purpose: I, or my child, will be tested for the alteration in the GNAQ gene that has been identified as a Sturge-Weber syndrome and non-syndromic port-win stains associated mutation. I understand that the testing will take approximately 3-4 weeks to complete. The purpose of this testing is to determine whether I, or my child, have an altered GNAQ gene that is involved in the development of non-syndromic port-wine stains or Sturge-Weber syndrome. I have had the opportunity to discuss the benefits and drawbacks of gene testing for myself or for my child. No information pertaining to the genetic test results will be provided to any of my relatives or any other parties without my written consent. Testing Procedure: Genetic testing requires several teaspoons (2 tubes) of blood and a 3mm skin punch biopsy. 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 results of the testing will be provided to the care provider who ordered the tests. No test results will be provided to me by phone or mail from the University of Pennsylvania Genetic Diagnostic Laboratory, regardless of the outcome. These tests are subject to change periodically to improve or expand the utility of the test. The tests are not considered research but are considered to be the best and newest laboratory service available. This testing is often complex and utilizes specialized materials so that there is a small possibility that the test will not work properly or that an error will occur, though the error rate is low. My signature below acknowledges my voluntary participation in this test, but in no way releases the laboratory and staff from their professional and ethical responsibility to me. 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. I understand that there is usually a minimal amount of risk involved in a skin punch biopsy. These include pain at the biopsy site, bleeding, bruising, infection, poor wound healing, scarring, and nerve damage. Sometimes stitches may be used to close the hole. Initials Page 1 of 3

5 Alternative to Genetic Testing: I understand that my participation in this testing is completely voluntary and will not affect my medical treatment now or in the future. The alternative is not to undergo testing, in which case I will not learn whether I have an altered form of the GNAQ gene. This decision is perfectly acceptable. Results: I understand that there are three possible results to this testing: 1) I may learn that I, or my child, have a clinically significant alteration in the GNAQ gene that is present in both the affected skin sample and in the blood sample. 2) I may learn that I, or my child, have a clinically significant alteration in the GNAQ gene that is present in the affected skin sample only. 3) I may learn that the testing did not detect the altered GNAQ gene. Limitations of Testing: These tests are subject to change periodically to improve or expand the utility of the test. The tests are not considered research but are considered to be the best and newest laboratory service available. 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 diseaseassociation 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 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 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. Initials Page 2 of 3

6 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 Parent of Guardian: I have read and received a copy of this consent form. I agree to have genetic testing for FOP 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 Signature of Parent/Guardian Date Relationship to Child Name of Child: Child s DOB: Consent of Patient: I have read and received a copy of this consent form. I agree to have genetic testing for FOP performed for myself 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 Initials Page 3 of 3