Download international center for fabry disease

Mount Sinai Genetic Testing Laboratory
Fabry Disease Testing
Atran Building, 1428 Madison Avenue, Room 2-32
New York, NY 10029
Tel: 212-241-7518; Fax: 212-659-6780; Email: [email protected]
Web page: http://www.mssm.edu/genetics/fabry/
________________________________________________________________________________
DIRECTOR
R.J. Desnick, PhD, MD
Dear Patient,
ASSOCIATE DIRECTOR
J. Cohen-Pfeffer, MD
Fabry disease testing at the Diagnostic Genetics Laboratory of The Mount Sinai
School of Medicine includes both enzyme assay (determining the amount of alphagalactosidase A in your blood sample) and DNA analysis (to identify the mutation, or
change, in the Fabry gene). In males the enzyme analysis is diagnostic; in other
words, the results of the enzyme assay will confirm whether the male patient does or
does not have Fabry disease. In the event that the male patient is found to have low
enzyme levels, confirming that he has Fabry disease, we will do DNA analysis to
identify the mutation in the Fabry gene.
PHYSICIANS
M. Balwani, MD
M. Wasserstein, MD
COORDINATOR
H. Naik, MS
GENETIC COUNSELOR
D. Doheny, MS, CGC
H. Naik, MS
DIAGNOSTIC
PROGRAM
K. Astrin, PhD
C. Yu, PhD
I. Nazarenko, MS
M. Yasuda, MD, PhD
J. Kim, MS
CLINICAL RESEARCH
PROGRAM
K. Astrin, PhD
B. Kirmse, MD
D. Doheny, MS, CGC
M. Yasuda, MD, PhD
EXPERT SPECIALISTS
Audiology
S. Chandrasekhar, MD
Car diology
M. Goldman, MD
D. Mehta, MD, PhD
Der matology
R. Phelps, MD
Gastr oenter olgy
T. Ullman, MD
Nephr ology
J. Winston, MD
Neur ology/Neur or adiology
T. Nadich, MD
C. Stacy, MD
Ophthalmology
S. Brodie, MD
In females, however, the enzymes assay is NOT diagnostic; many females who have
a mutation in their Fabry gene have normal enzyme levels. Therefore, to make a
definitive diagnosis whether a female is heterozygous or not, it is necessary to identify
a mutation in the female patient’s Fabry gene.
As you know, the Fabry disease testing is free to the patient. Although the enzyme
testing is relatively inexpensive for us to do, the DNA analysis is expensive. We
would greatly appreciate your help in the testing process. Especially for female
patients, but also for male patients, please:
 Provide information about your symptoms. If you have copies of any reports
(e.g. kidney biopsy, eye exam), please fax the report to me (212-659-6780) or include
with testing paperwork and blood sample.
 Provide information about your family’s medical history, including the names
and relationship of anyone diagnosed with Fabry disease and/or tested at Mount
Sinai. On the pedigree form please include names and ages of relatives, causes and
ages of death, and identify those individuals who have/had kidney disease, heart
problems, or stroke, or other symptoms of Fabry disease.
 For females who do not have a confirmed diagnosis of Fabry disease in a
family member, it is recommended that they have an ophthalmologic slit-lamp eye
exam to identify the corneal dystrophy (corneal whorls) that is present in about 80% of
females with a mutation in the Fabry gene; have the report faxed to me (212-6596780).
 If mutation analysis has been done previously on a family member, please let
us know; if possible provide the name of the family member, the lab where the testing
was done, the mutation, and/or a copy of the testing report (if done at a lab other than
Mount Sinai).
Thank you.
Sincerely,
Pulmonar y
G. Skloot, MD
Dana O. Doheny, MS, CGC
Genetic Counselor, Research Coordinator
Mount Sinai Genetic Testing Laboratory
Fabry Disease Testing
Atran Building, 1428 Madison Avenue, Room 2-32
New York, NY 10029
Tel: 212-241-7518; Fax: 212-659-6780; Email: [email protected]
Web page: http://www.mssm.edu/genetics/fabry/
__________________________________________________________________________________________
Blood draw Instructions for Patient:
Dear Patient,
Attached is the paperwork to send us a sample of blood for Fabry disease testing. Please read the instructions
and consent form. They should be taken with you when you have the blood drawn. The blood can be drawn
either at your doctor’s office, a commercial laboratory, or a local hospital. The consent form as well as the
patient intake information forms must be completed and signed, and returned with the blood sample.
There are no special dietary requirements. You can eat or drink as you normally would. It is recommended
that:
• The blood is drawn early in the week, on a Monday, Tuesday or Wednesday, but NOT the day before a
holiday. This will ensure that the blood does not arrive on a weekend or holiday, as there will be nobody here
to process it.
• The blood should be sent to our laboratory as soon as possible, preferably the same day that it is
drawn, by overnight courier or, for international shipping, Priority shipping (Federal Express, DHL, USPS,
UPS).
• The blood sample must be packaged securely to avoid breakage and leakage; for example, the blood
tubes should be put into a cushioned container and/or each tube wrapped in bubble wrap, and then placed into
a zip-lock baggie.
• The sample should be kept at room temperature; do not enclose an ice pack.
The laboratory where the blood is drawn can usually provide appropriate packaging and may even provide the
shipping as part of its services.
• It would be helpful to notify us (by telephone or email) when the sample is sent, providing the name of
the courier and the tracking number, so that we can track it if needed.
There is no charge for our laboratory to perform the testing; however you may be charged by the office where
the blood is drawn for the draw itself and/or shipping costs.
Enzyme analysis usually takes between 3 and 4 weeks, but may be inconclusive in females. DNA results may
take several months to obtain. We will notify you and/or your physician with results when they are available. I
can be reached at (866) 322-7963 to assist you with any of the above instructions or to answer any questions
that you may have. Should other family members wish to be tested, please have them contact me to arrange.
Sincerely,
Dana O. Doheny, MS, CGC
Genetic Counselor & Research Coordinator
866-322-7963, toll-free
212-659-6779, direct-line
Email: [email protected]
Mount Sinai Genetic Testing Laboratory
Fabry Disease Testing
Madison Avenue, Room 2-32
New York, NY 10029
Tel: 212-241-7518; Fax: 212-659-6780; Email: [email protected]
Web page: http://www.mssm.edu/genetics/fabry/
Atran Building, 1428
_______________________________________________________________________________________
FABRY DISEASE TESTING
Blood Collection and Shipping Instructions
The diagnosis of Fabry disease (α-Galactosidase A deficiency) by enzyme activity and/or DNA
mutation analysis requires the following blood specimens and volumes based on age and sex:
Assay
Adults/
Older Children
Infants/ Children
Vacutainer Tube Type
Enzyme Assay:
Males:
20 ml whole blood
5 ml whole blood
Sodium heparin (green top) tube
Females:
20 ml whole blood
5 ml whole blood
Sodium heparin (green top) tube
DNA Analysis:
7-10 ml whole blood
5 ml whole blood
EDTA (lavender top) tube
Lymphoid Cell Line:
10 ml whole blood
5 ml whole blood
ACD Solution A (yellow top) or Sodium
heparin (green top)
Obtain using sterile technique and label the
tube “sterile”
PRENATALTesting Requirements: 2-3 T-25 flasks of cultured cells AND 1 control flask
It is preferred that blood be sent for enzyme analysis AND DNA analysis, as well as a cell line.
Measurements of plasma and leukocyte a-galactosidase A activity are performed on all samples. Mutation analysis is
determined on a case by case basis by the staff of the International Center for Fabry Disease.
Please complete the attached forms (intake and consent); have the patient (or parent/guardian) read and sign
the informed consent and HIPAA authorization, and return all with the blood samples. If possible, please include a
family tree (pedigree) with three generations, providing the names and ages of each person, and indicate those
individuals affected with Fabry disease or other chronic illnesses. If an individual is deceased, please give the cause
and age at death.
There is no charge for this testing. The laboratory is New York State Department of Health and CLIA approved for
Fabry disease testing. The patient is responsible for the costs of the blood draw and the overnight shipping to the
laboratory.
Ship the specimens at room temperature by an overnight carrier (Federal Express, Airborne, etc) to the
address below. The specimens must arrive within 24-36 hours of collection. Specimens should be shipped Monday
through Wednesday only. Please notify us by telephone (1-866-322-7963 or 212-659-6783), Fax (212-360-1809), or
email ([email protected]) prior to shipment. Arrangements for international shipments should be made in
advance by fax or email before obtaining the samples. To expedite passage through US Customs, shipments of blood
samples must be marked “Human Blood, For Diagnostic Testing, Non-Infectious”, and “No Commercial Value.”
Shipping Address:
Mount Sinai Genetic Testing Laboratory
Fabry Disease Testing
Atran Building, 1428 Madison Avenue, Room 2-32
New York, NY 10029
Tel: 212-241-7518
If you have additional questions please contact
Dana Doheny, MS, CGC (1-866-322-7963;
email: [email protected]; Fax: 212-6596780).
Please also see our Web Page:
http://www.mssm.edu/genetics/Fabry/fabry.html
FOR LAB USE ONLY
Mount Sinai Genetic Testing Laboratory
Date Rec’d: _________
Fabry Disease Testing
Atran Building, 1428 Madison Avenue, Room 2-32
Asc# _____________
New York, NY 10029
Tel: 212-241-7518; Fax: 212-659-6780; Email: [email protected]
Family: ______________
Web page: http://www.mssm.edu/genetics/fabry/
Mutation: ____________
________________________________________________________________________________________
PATIENT INTAKE SHEET
Please Fill Out and Return with Signed Consent Form and the Blood Samples.
If You Have Any Questions About This Form, the Consent Form Or Samples, Please Contact: Dana
Doheny MS, CGC (toll-free: 1-866-322-7963, direct: 212-659-6779, email: [email protected]).
Date: _____________________________


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





NOTE:
DNA
Cord Blood
Buccal Swab
NaHep
EDTA
Cell line set-up
Prenatal
Amnio
CVS
Patient Name: ___________________________________________
Date of Birth: ______________________
Patient Address: _________________________________________
Gender:
 Male
 Female
_________________________________________
Phone: ___________________________
_________________________________________
Email: ___________________________
A Referring Physician (may be Family Physician) is required by New York State Regulation; according to New York State Regulation,
results will be sent to referring Physician:
Physician Name: _________________________________________
Phone: __________________________
Physician Address: _______________________________________
Fax: _____________________________
_______________________________________
Email: ___________________________
_______________________________________
Do you wish the results reported to the Patient/Guardian?
YES
NO
If you wish the results sent to another Physician, please give Physician’s name, address & phone:
Physician Name: _______________________________________
Phone: __________________________
Physician Address: ______________________________________
Fax: _____________________________
_______________________________________
Email: ___________________________
_______________________________________
Reason for referral:
Diagnosis: ________________________________________________________________________________________
Family History (include full names of affected relatives, if known): ____________________________________________
__________________________________________________________________________________________________
Other: ____________________________________________________________________________________________
Ethnicity (Countries of Origin): Mother’s side: _____________________________________________________________________
Father’s side: ______________________________________________________________________
Race:
□
Caucasian
□
Black
□
Asian
□
American Indian
□
Hispanic
□
Other: __________________
If patient is related to other individuals previously studied by our Laboratory, please list their full name(s) and relationship:
____________________________________________________________________________________________________________________________
Fabry Disease Testing: Intake Form
Page 1 of 3
Mount Sinai Genetic Testing Laboratory
Fabry Disease Testing
Atran Building, 1428 Madison Avenue, Room 2-32
New York, NY 10029
Tel: 212-241-7518; Fax: 212-659-6780; Email: [email protected]
Web page: http://www.mssm.edu/genetics/fabry/
________________________________________________________________________________________
PATIENT’S NAME: _____________________________
Please draw a family tree listing family members by first and last names, ages and indicate affected
Fabry males and heterozygous females. Try to Follow the Sample Family Tree Below
= Unaffected Male
= Unaffected Female
= Affected Fabry Male
= Heterozygous Female
Children
Married Couple
Married Couple
PEDIGREE / FAMILY HISTORY
Fabry Disease Testing: Intake Form
Page 2 of 3
Mount Sinai Genetic Testing Laboratory
Fabry Disease Testing
Atran Building, 1428 Madison Avenue, Room 2-32
New York, NY 10029
Tel: 212-241-7518; Fax: 212-659-6780; Email: [email protected]
Web page: http://www.mssm.edu/genetics/fabry/
________________________________________________________________________________________
FABRY DISEASE SYMPTOM CHECKLIST
PATIENT’S NAME:
DATE: ____________________
Please list ALL current medications (including over the counter and prescription medication):
No medications
If you have experienced any of the following symptoms, please check the appropriate boxes AND DESCRIBE:












Pain: describe:
Pain crisis: describe:
Skin findings: describe:
Impaired sweating: describe:
Heat and/or Cold Intolerance: describe:
Exercise Intolerance: describe:
Gastrointestinal Problems: (CIRCLE): abdominal pain, nausea, diarrhea, cramping, frequent bowel
movements, or constipation
Tinnitus or Hearing Loss: (CIRCLE): ringing in the ears, hearing loss, or vertigo
Eye Changes: a starburst pattern, or corneal whorls, seen on the cornea of the eye, found through a slit-lamp
eye exam performed by an ophthalmologist (Please include eye report, if available, or fax to 212-659-6780)
Chronic Fatigue
Proteinuria: elevated level of protein in the urine
Kidney Failure:
___renal insufficiency
___dialysis (date: _________)
___kidney transplantation (date: _________)

Kidney Biopsy: abnormal inclusion bodies seen in biopsied kidney tissue (Please include biopsy
report, if available, or fax to 212-659-6780)



Cardiac Problems:
___enlarged heart
___malfunctioning heart valves
___irregular heartbeat
___heart attack (date: _______)
___heart failure
___left ventricular hypertrophy
Chest Pain or Discomfort
Central Nervous System Problems:
___dizziness
___head pain
___stroke
Fabry Disease Testing: Intake Form
Page 3 of 3
Mount Sinai Genetic Testing Laboratory
Fabry Disease Testing
Atran Building, 1428 Madison Avenue, Room 2-32
New York, NY 10029
Tel: 212-241-7518; Fax: 212-659-6780; Email: [email protected]
Web page: http://www.mssm.edu/genetics/fabry/
______________________________________________________________
CONSENT FOR COMMUNICATION VIA E-MAIL (Provider-Patient)
I, ______________________________________, hereby consent to have my physician,
Print patient’s name
______________________________, communicate with me or members of his staff, where
Print name of physician
appropriate or other physicians, nurse practitioners and pharmacists via e-mail regarding the
following aspects of my medical care and treatment: [test results, prescriptions, appointments,
billing, etc.]. I understand that e-mail is not a confidential method of communication. I further
understand that there is a risk that e-mail communications between my physician and me or
members of my physician’s office staff, or between my physician and other physicians, nurse
practitioners and pharmacists regarding my medical care and treatment may be intercepted by
third parties or transmitted to unintended parties. I also understand that any e-mail
communications between my physician and me or members of his office staff, or between my
physician and other physicians, nurse practitioners or pharmacists regarding my medical care
and treatment will be printed out and made a part of my medical record. I understand that in an
urgent or emergent situation I should call my provider or go to the Emergency Room and not rely
on e-mail.
Signature:____________________________
MR-240 (9/03)
Date: _________________
International Center for Fabry Disease
Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine
Toll Free Phone (US): 1-866-FABRY-MD (1-866-322-7963)
__________________________________________________________________________________________
March 2012
Dear Sir or Madam:
We are conducting a research study, Phenotype/Genotype and Genetic Studies of Fabry Disease, (GCO# 05-0903) which
involves studying the relationship between the type of change (or mutation) in the α-galactosidase A gene which causes
Fabry disease. The study will be carried out using samples sent to us for diagnostic studies. You/your child/your ward qualify
for this study because you are sending (or have sent) samples for Fabry disease testing. We would like to include your
samples (DNA and cell lines) and information (test results, medical history, clinical information, and family history) in our study
and need your signed permission. This research project has been approved by the Institutional Review Board of the Mount
Sinai School of Medicine.
You/your child/your ward are not required to participate in this research study to have diagnostic testing for Fabry
disease.
Participation in this study includes:
1) No additional blood samples are requested for the research studies nor are there any charges involved in participation.
In rare cases, you may be asked to send us a small amount of urine. The samples will be identifiable — i.e., although your
sample will be identified by a number, this number is linked to your name in a password-protected database. This is
necessary since we will be comparing mutations with symptoms of Fabry disease.
2) Providing information related to Fabry disease symptoms that you can obtain from health care providers, medical
records and/or questionnaires. You may be asked to sign a “medical records release form” so that medical records can be
obtained from physicians or other medical institutions.
3) Providing information about family medical history and/or a family tree indicating the names, ages, causes of death (if
relevant) of family members including those who may have had Fabry disease. We will not contact other family members;
however, we may request that you ask them to contact us so we can explain our studies, and obtain their consent and
samples.
4) Completion of questionnaires requesting information about your and your family’s medical history and current
symptoms. We may ask you/your child/your ward (with permission) to complete these questionnaires every one or two years
in order to learn if your Fabry disease symptoms are changing with age.
5) Your permission to include your clinical, biochemical and molecular information in our database for research purposes.
6) Your permission to use your samples in other studies.
You/your child/your ward will not be reimbursed for your/your child’s/your ward’s time. Non-participation will not affect future
medical care you/your child/your ward may receive at this institution. If you/your child/your ward have any questions about
this research project or if you want your/your child’s/your ward’s DNA sample and/or cell line destroyed at any time or
information removed from the research study, please write or telephone Dr. R. J. Desnick, Professor and Chairman,
th
Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100 Street, New York, NY
10029; tel 212-659-6700; or Dana Doheny, the genetic counselor, (tel: 212-659-6779; email: [email protected]).
There are no physical risks or discomforts from participation in this study since no additional blood samples are requested.
There is no direct benefit to you from being part of the study. However, the information obtained from this research project
may provide valuable information about the relationship between mutations and symptoms of Fabry disease.
There is a risk of loss of confidentiality when you choose to allow us to link your samples to your clinical information. However,
we will take precautions to protect your confidentiality by having your/your child’s/your ward’s information stored on passwordprotected computers and be available only to the principal investigator and several of his associates.
Your/your child’s/your ward’s identity as a participant in this research study will be kept confidential in any publication of the
results of this study. The information obtained during this research (Research Record) will be kept confidential to the extent
permitted by law. However, this Research Record and your personal Medical Record (if any, and if relevant, to the study)
may be reviewed by government agencies (such as the Food and Drug Administration or the Department of Health and
Human Services), the agency or company sponsoring this research, individuals who are involved in, or authorized to monitor
or audit, the research, or the Institutional Review Board (the committee that oversees all research in humans at Mount Sinai
School of Medicine) if required by applicable laws or regulations.
Also included is a HIPAA (Health Insurance Portability and Accountability Act) Research Subject Authorization that describes
your/your child’s confidentiality and privacy rights for this study. Please read this document. If you agree with the HIPAA
Authorization, please sign and return the form with your samples; a copy of the HIPAA Authorization form will be mailed back
to you.
Sometimes a research investigator or Mount Sinai School of Medicine has a financial interest that could be affected by the
results of a research study. The Medical School reviews all research proposals and has policies in place to limit the possibility
that financial interests will influence how studies are conducted. This section will inform you if such a financial interest exists in
this study.
Researchers in the Department of Genetics and Genomic Sciences at Mount Sinai School of Medicine have developed
and patented drug therapies for Fabry Disease and Niemann-Pick Disease. Mount Sinai School of Medicine has licensed
these drug therapies to the Genzyme Corporation. Genzyme manufactures and sells the licensed drug Fabrazyme and
the drug sales generate royalty payments for Mount Sinai School of Medicine, the Department of Genetics and Genomic
Sciences, the Chairman of the Department of Genetics and Genomic Sciences and Dean for Genetics and Genomics
(Dr. Desnick, the Principal Investigator) and some other faculty members in the department. In addition, Dr. Desnick
receives research support and financial compensation from Genzyme as a consultant. Dr. Jessica Cohen-Pfeffer has no
financial interest in Genzyme
The current study is supported by MSSM.
If you have any further questions, please contact MSSM’s Financial Conflict of Interest Committee at 212-659-8980.
We hope that with your help we will gain insight into the relationship between the type of mutations in the α-Gal A gene and
clinical symptoms of Fabry disease. Thank you for your time and cooperation.
Sincerely,
R.J. Desnick, PhD, MD
Professor and Chairman, Genetics and Genomic Sciences
Please check one of the boxes below, sign, provide requested information and return this letter with your blood
samples.
□
YES. I have read the above letter and give my permission to use my (my child’s/my ward’s) samples and information
in the research project “Phenotype/Genotype and Genetic Studies of Fabry Disease” (GCO# 5-0903).
□
□
YES, I wish to participate in this research project, but not in future studies.
NO, I do not wish to participate in this research project.
Signature: ____________________________________________________
Date: __________________
Print Name of Subject: __________________________________________
Relationship of Signer to Subject:
□
Self
□
Other: ___________________________________