English - Istituto Giannina Gaslini

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ISTITUTO GIANNINA GASLINI
DIPARTIMENTO DI RICERCA E DIAGNOSTICA
U.O.S.D. CENTRO DI DIAGNOSTICA
GENETICA E BIOCHIMICA DELLE
MALATTIE METABOLICHE
Responsabile: Dr. Mirella Filocamo
Tel +39 010 5636 2792/2609
Fax +39 010 383983
e-mail:[email protected]
http://dppm.gaslini.org/biobank/
ISTITUTO A CARATTERE SCIENTIFICO
(D.M. 24/4/1959, N° 300.8/60807)
per la cura, difesa ed assistenza
dell'infanzia e della fanciullezza
LARGO G. GASLINI, 5 - 16148 GENOVA, ITALY
http://www.gaslini.org/
SUBMISSION FORM
>>>>>>>>> ATTENTION <<<<<<<<<
FILL IN INFORMED CONSENT
Please, fill in all applicable items of the form to be sent with the sample to the Laboratory
Referring Clinician
Institute
Address
Phone
Fax
e-mail
TYPE OF SERVICE
ESTABLISHMENT OF CELL LINES
DNA/RNA EXTRACTION
ANALYSIS
>>> Please, specify type of test requested
BANKING
SAMPLE INFORMATION
TYPE OF SAMPLE SUBMITTED
TISSUE:
*
NO
Date
Peripheral blood
CULTURE:
YES
Skin biopsy
Amniotic fluid
Fibroblast
Other
Amniocyte
Lymphoblast
Chorionic villus
Other
FOR CELL LINES, SPECIFY
Date originally established:
Passage of submitted culture
Medium, serum (type and %)
Other useful details for growth and freezing
PATIENT INFORMATION
SURNAME
NAME
DATE OF BIRTH
PLACE OF RESIDENCE
PLACE OF BIRTH
FATHER ORIGIN
MOTHER ORIGIN
PHENOTYPIC SEX
FAMILIARITY
Male
NO
YES
(please enclose pedigree)
Female
Ambiguous
CONSANGUINEITY
NO
YES
1
DIAGNOSIS (if available)
OMIM
TYPE OF DIAGNOSIS:
clinical
biochemical
molecular
other
CENTRE PERFORMING DIAGNOSIS
ANAMNESTIC
DATA
Pregnancy
Perinatal pathology
Psychomotor development delay
NO
Psychomotor regression
YES
NO
YES
Age of onset
Symptomatology at onset
CLINICAL EVALUATION
Dwarfism
Dysmorfic features
Macrocrania
Macrosomia
Microcrania
Deafness
Respiratory failure
Acute symptoms
Intermittent symptoms
Microsomia
Coarse facies
Skin anomalies
Hair anomalies
(specify)
(specify)
other
VISCERAL ANOMALIES
Failure to thrive
Jaundice
Poor feeding
Ascites
Diarrhoea
Hepatomegaly
Vomiting
Dilated Cardiomiopathy
Splenomegaly
Hypertrophic Cardiomiopathy
other
OCULAR ANOMALIES
Cataracts
Retinal degeneration
Optic atrophy
Strabismus
Cherry red spot
Nystagmus
Ophtalmoplegia
Blindness
Corneal opacities
other
NEUROLOGICAL ANOMALIES
Ataxia
Mental retardation
Myoclonic jerks
Lethargy
Muscular involvement
Seizures
Psychosis
Involuntary movements
Pyramidal signs
Hypotonia
Hypertonia
Peripheral neuropathy
other
OSSEOUS ANOMALIES (specify)
NEPHROLOGICAL ANOMALIES (specify)
HAEMATOLOGICA ANOMALIES (specify)
LABORATORY ANOMALIES (specify)
2
NEURORADIOLOGICAL TESTS
CT SCAN
MRI
MRS
fMRI
other
NEUROPHYSIOLOGICAL TESTS
EEG
VEP
ERG
BAEP
SEP
NCV
EMG
other
Please cite reference(s) if this patient has been reported in literature:
*IN CASE OF BANKING,
By signing this form the User agrees to the following conditions:




To provide clinical and laboratory documentation of the donor subject
To send appropriate written informed consent obtained from the donor subject
Not to use the banked sample for commercial purposes
To cite the Biobank in the acknowledgements of any scientific production, with the following “The “Cell Line and DNA
Biobank from Patients affected by Genetic Diseases” (Istituto G. Gaslini), member of the Telethon Network of Genetic
Biobanks (project no. GTB12001), provided us with specimens”, and to send a copy of the published work to the
Biobank.
Place, Date
Signature of User
3
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