Istituto CSS-Mendel
DSQ 05, Rev. 08
ELENCO DELLE INDAGINI ESEGUIBILI
Data 11-04-2013
Diagnosi di Genetica Molecolare Referente di Settore: Dr Alessandro De Luca PATOLOGIA
TEST GENETICO POSTNATALE
TEMPI DI REFERTAZIONE
TIPOLOGIA CAMPIONE
n.
nome
TEST GENETICO
metodo
giorni
1
Acondroplasia
FGFR3-GENE
PCR/SEQ
30
S.ED.
2
epidermolisi bollosa ereditaria Analisi forensi Angelman, Sindrome di Atassiateleangiectasia
FGFR3-RE EBE-MUT EBE-STRs FOR-STRs PWS/AS-UPDcr15 PWS/AS-DEL/MET ATM-DEL ATM-STRs ATM-MUT ATM-GENE SMN1-DEL SMN1-RE SMN1-STRs BWS-UPDcr11 BWS -DEL/MET
PCR/2RE PCR/SEQ PCR/STR PCR/STR PCR/STR MLPA MLPA PCR/STR PCR/SEQ PCR/SEQ MLPA PCR/RE PCR/STR PCR/STR MLPA
30 15 30 30 30 30 30 30 15 180 30 30 30 30 30
S.ED. S.ED S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED.
EYA1-GENE EYA1-MUT UPDcr2-STRs UPDcr6-STRs UPDcr14-STRs UPDcr16-STRs UPDcr20-STRs GJA1-SEQ GJA1-MUT SGCE-GENE SGCE-MUT DYT1-STR
PCR/SEQ PCR/SEQ PCR/STR PCR/STR PCR/STR PCR/STR PCR/STR PCR/SEQ PCR/SEQ PCR/SEQ PCR/SEQ PCR/STR
120 15 30 30 30 30 30 30 15 90 15 30
S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED.
DMPK-STRs DMPK-LONG DMPK-SHORT CAV3-GENE CAV3-MUT EVC-GENE EVC2-GENE EVC/EVC2-MUT EVC/EVC2-STRs
PCR/STR PCR-S.BLOT PCR/STR PCR/SEQ PCR/SEQ PCRSEQ PCR/SEQ PCR/SEQ PCR/STR
30 60 30 30 15 90 90 15 30
S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED. S.ED.
3 4 5
6
Atrofia muscolare spinale
7
BeckwithWiedemann, Sindrome di Branchio-Oto-Renale, Sindrome Disomia Uniparentale
8 9
10 11 12 13
14 15
Displasia OculoDentoDigitale Distonia mioclonica Distonia primaria di torsione Distrofia miotonica di Steinert Distrofia muscolare dei cingoli di tipo 1C Ellis-Van Creveld,Sindrome di
16
Esostosi multiple ereditarie
EXT1/EXT2-GENI EXT1/EXT2-STR EXT1-GENE EXT1-MUT EXT2-GENE EXT2-MUT
PCR/SEQ PCR/STR PCR/SEQ PCR/SEQ PCR/SEQ PCR/SEQ
120 30 90 15 90 15
S.ED. S.ED. S.ED. S.ED. S.ED. S.ED.
17
Fibrosi cistica
CFTR-RDB-17+19 CFTR-RDB-17 CFTR-RDB-19 CFTR-RDB- 35MUT CFTR-RDB-IT CFTR-MUT
PCR/REV DOT BLOT PCR/REV DOT BLOT PCR/REV DOT BLOT PCR/REV DOT BLOT PCR/REV DOT BLOT PCR/SEQ
30 30 30 30 30 15
S.ED. S.ED. S.ED. S.ED. S.ED. S.ED.
Pagina 1 di 6 N.B.: In caso di prestazioni eseguite in regime di convenzione, gli oneri a carico dell’utente sono quelli previsti dalla legge.