Department of Dermatology Zertifiziert nach DIN EN ISO 9001:2000 UNIVERSITY FREIBURG - MEDICAL CENTER Department of Dermatology, Hauptstraße 7, D-79104 Freiburg Professor and Chair Dr. L. Bruckner-Tuderman, M.D.
Epidermolysis bullosa-Center
Phone +49 (0) 761–270–66140 Fax +49 (0) 761–270–67910 E-mail [email protected] www.netzwerk-eb.de
BLOOD SAMPLES FOR THE MOLECULAR GENETIC ANALYSIS OF INHERITED DISORDERS
Dear Colleagues,
For the analysis we require 10ml EDTA blood (please not in heparin- or citrate) per person. For small children 5-10ml is sufficient, for babies even less is sufficient (ca. 2-3 ml).
Please mix the blood samples after the blood has been taken and send via post to the the address below. The samples do not need to be cooled or frozen. When packing, please take care with the labelling and protection of the tubes.
Clinical information and pictures of the patients, as well as a family pedigree, aid the investigation and assessment of the patient.
The mutation analysis will be carried out in co-operation with the Human Genetics, Freiburg.
Costs on enquiry
In order to avoid complications with the transport, please inform us when you send a sample, either via e-mail ([email protected]), telephone+49 (0) 761/ 270-66140 or fax +49 (0) 761/ 270-67910, and in very urgent cases, via telephone +49 (0) 761/ 270-67850.
Postal address: Department of Dermatology University Freiburg - Medical Center c/o Prof. Dr. C. Has Hauptstr.7 D-79104 Freiburg, Germany
Many thanks for your co-operation.
November 2011
To UNIVERSITÄTS-HAUTKLINIK Department of Dermatology Professor and Chair University Freiburg - Medical Center Dr. L. Bruckner-Tuderman, M.D. c/o Prof. Dr. C. Has Hauptstr.7 Epidermolysis bullosa Center D-79104 Freiburg Germany Tel. +49 7 61 – 2 70 – 66140 Fax +49 7 61 – 2 70 – 67910 e-mail [email protected] www.netzwerk-eb.de
Blood samples for the molecular genetic analysis of inherited disorders
Please fill in this form and send it with the test material (EBTA blood or DNA).
Costs on enquiry
Epidermolysis bullosa simplex Mutation analysis KRT5 and KRT14 genes Junctional Epidermolysis bullosa (non-Herlitz) Mutation analysis COL17A1 genes Junctional Epidermolysis bullosa with pylorusatresia Mutation analysis α6β4 Integrin genes Dystrophic Epidermolysis bullosa Mutation analysis COL7A1 gene Junctional Epidermolysis bullosa Herlitz Mutation analysis LAMB3 gene Kindler-Syndrome Mutation analysis FERMT1 ( KIND1) gene Acral Peeling Skin Syndrom (APSS) Mutation analysis TGM5 gene Erythrokeratodermia variabilis Mutation analysis GJB3, 4 genes KID-Syndrome (autosomal dominant) Mutation analysis GJB2 (Cx26 ) gene
Patient: male female Surame, forename Name at birth Date of birth
Residential address
Indication and clinical information Clinical findings, previous results, existing pregnancy, previous miscarriages, family history, pedigree (see enclosure), clinical pictures of the patient (if possible)
November 2011 Have molecular genetic analyses already been carried out in the family?
If so, name of family or index patient::......
When and where?......
Samples from additional family members have been includes: Surname, forename Date of birth Family relation Country of origin Illness?
Referring clinician Surname, forename
Address
Phone Fax e-mail
Date Signature
Informed consent: I give my consent that my/ my child’s blood/ DNA sample will be examined for genetic changes (mutations) in the gene(s)/ with the procedure specified below related to the diseases/ clinical features described above. Herewith I declare that I have been informed about the chances and limitations of the requested testing procedure. I was informed in detail about the consequences resulting from the test results. I agree that the sample may be stored in order to allow repetition of the tests or further related tests in the future. All data about me/ my child are subject to medical confidentiality. They can be disclosed to family members or their doctors only with my permission, but not to third parties. I’m entitled to revoke this consent at any time. I agree that my / my child’s tests results/ clinical data may be used in scientific publications in anonymized form yes no
______Place/ date Signature patient/ parent
November 2011 Template for the drawing of pedigrees Date: ______Family: ______
Please complete the pedigree of the family with fornames, surnames and birth dates. Legend:
male, healthy male, affected
female, healthy
female, affected
miscarriage/abortion proband/index patient
December 2009