Monday, September 16, 2019
IRST - Meldola
Information

e-mail: info@irst.emr.it

phone +39 0543 739100

.: How to book a genetic examination (italian version only)

.: Services list: investigation type, reporting time e documents required

.: List of Bioscience Laboratory equipments and technologies

Back to Bioscience Laboratory

Back to Genetic counselling

Back to Molecular diagnostics

Forms

>>  MOD086 - Foglio informativo per il paziente (analisi genetiche per l’identificazione di un rischio ereditario allo sviluppo di tumori)

>>  MOD088 - Istruzioni richiesta ed invio materiale biologico (analisi rischio ereditario)

>>  MOD132 - Istruzioni per la richiesta e l’invio di materiale biologico - Analisi dei geni BRCA1 e BRCA2 a livello somatico e germinale

>>  MOD133 - Invio richiesta e modalità pagamento ticket esami Laboratorio di Bioscienze

>>  R01-P01 - Modulo richiesta analisi per alterazioni germinali

Useful contacts

Dr Valentina Zampiga - Referring Biologist
phone +39 0543 739908
phone +39 0543 739232
phone +39 0543 739233
from monday to friday 8:30 a.m. - 5:00 p.m.

Dr Gianluca Tedaldi -  Examining Biologist
Dr Ilaria Cangini - Examining Biologist
Dr Francesca Pirini - Examining Biologist
phone +39 0543 739232
phone +39 0543 739233
from monday to friday  8:30 a.m. - 5:00 p.m.

Staff

Dr Daniele Calistri
(Biologist in chief)

Dr Fabio Falcini
(Referring Specialist)

Dr Danesi Rita
(Cytogeneticist in chief)

Dr Valentina Zampiga
(Genetic Counselling Referring Biologist)

Dott.ssa Francesca Pirini
(Biologist)

Dr Mila Ravegnani
(Geneticist Biologist)

Dr Gianluca Tedaldi
(Biologist)

Sede di Rimini
Dr Valentina Arcangeli
(Cytogeneticist)

Genetic counselling services


Italian version

 Hereditary Breast and Ovarian Cancer (HBOC)

Analysis

Investigation type

Materials

Reporting time

Documents required

Instructions

BRCA1 mutation analysis (complete test)

Mutation analysis

DNA from EDTA blood sample

180 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

BRCA2 mutation analysis (complete test)

Mutation analysis

DNA from EDTA blood sample

180 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

Urgent BRCA1 mutation analysis (complete test)

Mutation analysis

DNA from EDTA blood sample

35 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

Urgent BRCA2 mutation analysis (complete test)

Mutation analysis

DNA from EDTA blood sample

35 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

Somatic and germ line BRCA1 e BRCA2 mutation analysis (complete test) - predective marker

Mutation analysis and investigation of exon deletions/duplications

DNA from healthy and tumor FFPE tissues
DNA from EDTA blood sample

35 days

1) n.2 richieste SSN
2) richiesta specifica (R02-P01)
3) richiesta specifica (R04-P01)
4) richiesta specifica (R05-P01)
3) consenso informato (MOD086)

istruzioni invio materiale biologico (MOD132)

BRCA1 or BRCA2 targeted mutation analysis

Mutation analysis

DNA from EDTA blood sample

35 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

Investigation of BRCA1  rearrangements by MLPA

Investigation of exon deletions/duplications

DNA from EDTA blood sample

35 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

Investigation of BRCA2  rearrangements by MLPA

Investigation of exon deletions/duplications

DNA from EDTA blood sample

35 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

Ricerca riarrangiamenti CHEK2 mediante MLPA

Investigation of exon deletions/duplications

DNA from EDTA blood sample

120 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)


 Hereditary diffuse gastric cancer (HDGC)

Analysis

Investigation type

Materials

Reporting time

Documents required

Instructions

CDH1 mutation analysis

Mutation analysis

DNA from EDTA blood sample

120 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

CDH1 targeted mutation analysis

Mutation analysis

DNA from EDTA blood sample

35 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

Investigation of  CDH1 rearrangements by MLPA

Investigation of exon deletions/duplications

DNA from EDTA blood sample

120 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)


 Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome

Analysis

Investigation type

Materials

Reporting time

Documents required

Instructions

Microsatellite instability analysis (hereditary cancer)

Analysis of the size alterations of microsatellite sequences

DNA from healty and tumor FFPE tissues

10 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

MLH1 mutation analysis

Mutation analysis

DNA from EDTA blood sample

120 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

MLH1 targeted mutation analysis

Mutation analysis

DNA from EDTA blood sample

35 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

MSH2 mutation analysis

Mutation analysis

DNA from EDTA blood sample

120 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

MSH2 targeted mutation analysis

Mutation analysis

DNA from EDTA blood sample

35 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

MSH6 mutation analysis

Mutation analysis

DNA from EDTA blood sample

120 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

MSH6 targeted mutation analysis

Mutation analysis

DNA from EDTA blood sample

35 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

Investigation of  MLH1 and MSH2 rearrangements by MLPA

Investigation of exon deletions/duplications

DNA from EDTA blood sample

120 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

Investigation of  MSH6 rearrangements by MLPA

Investigation of exon deletions/duplications

DNA from EDTA blood sample

120 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)


 Li-Fraumeni Syndrome

Analysis

Investigation type

Materials

Reporting time

Documents required

Instructions

p53 mutation analysis

Mutation analysis

DNA from EDTA blood sample

120 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

p53 targeted mutation analysis

Mutation analysis

DNA from EDTA blood sample

35 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)


 Neurofibromatosis Type II

Analysis

Investigation type

Materials

Reporting time

Documents required

Instructions

NF2 mutation analysis

Mutation analysis

DNA from EDTA blood sample

120 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

NF2 targeted mutation analysis

Mutation analysis

DNA from EDTA blood sample

35 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

Investigation of  NF2 rearrangements by MLPA

Investigation of exon deletions/duplications

DNA from EDTA blood sample

120 days

1) richiesta SSN
2) richiesta specifica (R01-P01)
3) consenso informato (MOD86)

istruzioni invio materiale biologico (MOD088)

 

For further information please see box "Useful contacts".

Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (I.R.S.T.) S.r.l.
Sede legale: 47014 Meldola (FC) Via Piero Maroncelli, 40
Capitale Sociale interamente versato Euro 20.000.000,00 - R.E.A. 288572 (FC)
Reg. Imprese FC/Cod. Fisc./Partita IVA 03154520401
Tel. 0543 739100 - Fax 0543 739123
e-mail: info@irst.emr.it - internet: www.irst.emr.it
PEC: direzione.generale@irst.legalmail.it