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ITALY

LOMBARDIA
MILANO

Molecular diagnosis of achondroplasia (FGFR3 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of ocular albinism (GPR143 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Kallmann syndrome (KAL gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Y chromosome deletions
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of congenital pulmonary alveolar proteinosis (SFTPB gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Prader-Willi/Angelman syndrome
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of torsion dystonia (DYT1 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of CADASIL (NOTCH3 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of uniparental disomy
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Muscular dystrophy, Duchenne and Becker type (DMD gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of hemochromatosis (HFE gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Fragile X syndrome (FRAXA) (FMR1 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of hypochondroplasia (FGFR3 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of ichthyosis, X-linked (STS gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Von Hippel-Lindau disease (VHL gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of neuropathy with liability to pressure palsies (PMP-22 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of spastic paraplegia (SPAST, SPG7 genes)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Emery-Dreifuss muscular dystrophy (LMNA gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Charcot-Marie-Tooth disease (type 1, 2A2, 2B1) (EGR2, MPZ, PMP22, LMNA, MFN2 genes)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of atypical Werner syndrome
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of mandibuloacral dysplasia (LMNA gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of muscular dystrophy limb girdle autosomal recessive type 2I (FKRP gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of muscular dystrophy, congenital type 1C (FKRP gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of muscular dystrophy limb-girdle autosomal dominant with cardiac involvement type 1B, chromosome 1-linked (LMNA gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of lipodystrophy familial partial, Dunnigan type (LMNA gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of cardiomyopathy dilated with conduction defect (LMNA gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Hutchinson-Gilford progeria (LMNA gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Stargardt disease (ABCA4 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of familial hemiplegic migraine (ATP1A2, CACNA1A genes)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of cystic fibrosis (CFTR gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of familial paroxysmal ataxia (CACNA1A gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of X-linked Charcot-Maire-Tooth disease (GJB1 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Brugada syndrome (SCN5A gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of familial long QT syndrome (SCN5A gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of familial cardiac conduction defect (SCN5A gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of metachromatic leukodystrophy (ARSA gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of familial breast cancer (BRCA1 and BRCA2 genes)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of polycystic kidney disease, dominant type (PKD1, PKD2 genes)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of FRAXE syndrome (AFF2 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics