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ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of Blackfan-Diamond disease (RPS19, RPS24, RPS17, RPS26, RPS10, RPL5, RPL11, RPL 35A gene sequencing)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of Wiskott-Aldrich syndrome (WAS gene sequencing - for male patients only)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of congenital dyserythropoietic anemia (CDAN1 and SEC23B genes: mutation screening and sequencing)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular
Objetivo(s) : Búsqueda/cribado de mutaciones y secuenciación de exones seleccionados

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of osteopetrosis (TCIRG1 and CLCN7 gene sequencing)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of autoimmune lymphoproliferative syndrome (FAS, FASLG and CASP10 gene sequencing)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of familial hemophagocytic lymphohistiocytosis (PRF1, STX11, UNC13D and STXBP2 gene sequencing)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of X-linked lymphoproliferative disease (XIAP and SH2DA1 gene sequencing)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of congenital amegakaryocytic thrombocytopenia (MPL gene sequencing)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of Shwachman-Diamond syndrome (SBDS gene sequencing)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of Fanconi anemia (FANCD2, FANCA, FANCG, FANCC, FANCJ, FANCN and BRCA2 mutation analysis and MLPA)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular
Técnica(s) : Técnicas basadas en MLPA

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of alpha-thalassemia (HBA1 and HBA2 genes:deletion and sequencing analyses)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular
Objetivo(s) : Análisis de deleción/duplicación

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of beta-thalassemia (HBB gene:mutation and sequencing analyses)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of dyskeratosis congenita (NOLA2, NOLA3, DKC1, TERT and TERC gene sequencing)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of severe congenital neutropenia (ELANE, HAX1, GFI1, G6PC3, WAS and CSF3R gene sequencing)
Schneider Children's Medical Center of Israel
Propósito : Diagnóstico postnatal
Especialidad(es) : Genética molecular