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					  ISTITUTO GIANNINA GASLINI                                                DIPARTIMENTO DI NEUROSCIENZE


                                                                           S.S.D. LABORATORIO DIAGNOSI
                                                                           PRE E POST-NATALE MALATTIE
                                                                           METABOLICHE
                                                                           Responsabile: Dr. Mirella Filocamo
       ISTITUTO A CARATTERE SCIENTIFICO                                    Tel +39 010 5636 792/609
                 (D.M. 24/4/1959, N° 300.8/60807)
                  per la cura, difesa ed assistenza                        Fax +39 010 383983
                   dell'infanzia e della fanciullezza                      e-mail:dppm@ospedale-gaslini.ge.it
                                                                           http://dppm.gaslini.org/biobank/
 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   YES    *        NO


SAMPLE INFORMATION
TYPE OF SAMPLE SUBMITTED                                             Date
TISSUE:          Peripheral blood                  Skin biopsy             Amniotic fluid           Other
CULTURE:                  Fibroblast                                     Amniocyte                      Chorionic villus
                     Lymphoblast                                 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                                      Male                                Female                          Ambiguous
FAMILIARITY                NO                YES        (please enclose pedigree)                  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             YES                Psychomotor regression              NO           YES

Age of onset
Symptomatology at onset

CLINICAL EVALUATION
   Dwarfism              Dysmorfic features               Macrosomia              Microsomia                        Coarse facies
     Macrocrania            Microcrania                 Respiratory failure          Skin anomalies              Hair anomalies
 Deafness                Acute symptoms                 (specify)
  Intermittent symptoms             (specify)                                                     other


VISCERAL ANOMALIES
     Failure to thrive          Poor feeding                Diarrhoea            Hepatomegaly                 Splenomegaly
 Jaundice             Ascites              Vomiting                         Hypertrophic Cardiomiopathy
     Dilated Cardiomiopathy                     other
OCULAR ANOMALIES
  Cataracts               Retinal degeneration                       Strabismus             Nystagmus                   Blindness
            Optic atrophy              Cherry red spot                        Ophtalmoplegia              Corneal opacities
       other
NEUROLOGICAL ANOMALIES
 Ataxia           Mental retardation             Seizures               Psychosis          Hypotonia             Hypertonia
 Myoclonic jerks                Lethargy            Involuntary movements                          Peripheral neuropathy
  Muscular involvement              Pyramidal signs                 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 samples were
      obtained from the “Cell Line and DNA Biobank from Patients Affected by Genetic Diseases” (G. Gaslini Institute) -
      Telethon Genetic Biobank Network (Project No. GTB07001)” Biobank- Telethon Genetic Biobank Network (project no.
      GTB07001A)”, and to send a copy of the published work to the Biobank.



Place, Date                                                                                      Signature of User




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