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ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Adenosine deaminase deficiency (ADA, sequencing analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Agenesis of corpus callosum with dysmorphism and fatal lactic adicosis (MRPS22, sequencing analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of ARX-related disorders (ARX, sequencing analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of APCED, polyglandular syndrome (AIRE, Mutation analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of combined oxidative phosphorylation deficiency (GFM1, sequencing analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Dysferlinopathy (DYSF, Mutation analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Early-onset primary dystonia (DYT1, Mutation analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Facioscapulohumeral muscular dystrophy (Deletion/duplication analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare
Obiettivo(i) : Analisi di delezioni/duplicazioni

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Familial hypoaldosteronism (CYP11B2 genes)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare
Obiettivo(i) : Analisi mirata a una mutazione specifica
Tecnica/Tecniche : Sequenziamento con metodo Sanger

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Familial Mediterranean Fever (MEFV, exon 10 sequencing, Mutation analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of FMR1-related syndromes (FMR1, Mutation analysis, Carrier screening)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Non-syndromic hearing loss (GJB2, GJB6, Mutation analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of GNE-related myopathies (GNE, Mutation analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Hereditary Breast/Ovarian Cancer (BRCA1, BRCA2, Mutation analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of L1 syndrome (L1CAM, sequencing analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Leber hereditary optic neuropathy (Mitochondrial DNA, sequencing analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Leigh syndrome (COX10, SCO1, SCO2, SURF1, sequencing analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of MELAS (MT-TL1, sequencing analysis, Mutation analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of MELAS (MT -ND5, sequencing analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of MERRF (MT-TK, Mutation analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial cardiomyopathy (Mitochondrial DNA, Mutation analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial DNA depletion syndromes (TK2, SUCLA2, sequencing analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial DNA-associated Leigh syndrome and NARP (Mutation analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial respiratory chain complex III deficiency (BCS1L, sequencing analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial respiratory chain complex III deficiency (UQCRB, sequencing analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial respiratory chain complex III, cytochrome b subunit (MT-CYB, sequencing analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of MTRNR1-related hearing loss (MT-RNR1, sequencing analysis, Mutation analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of MTTS1-related hearing loss (MT-TS1, sequencing analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of POLG-related disorders (POLG, sequencing analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Progressive external ophthalmoplegia with mitochondrial DNA deletions (SLC25A4, sequencing analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare
Obiettivo(i) : Analisi di delezioni/duplicazioni

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of congenital myasthenic syndrome (RAPSN, sequencing of promoter and exon 2, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Severe combined immunodeficiency, autosomal recessive (RAG1, RAG2, sequencing analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Short chain acyl-CoA dehydrogenase deficiency (ACADS, Mutation analysis)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of amyotrophic lateral sclerosis, ALS1 (SOD1, sequencing analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Tyrosinemia type I (FAH, Mutation analysis, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of 46,XX testicular disorder of sex development (SRY)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Bloom syndrome (BLM, Mutation analysis, Carrier screening, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Canavan disease (ASPA, Mutation analysis, Carrier screening, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Fanconi Anemia C (FANCC, Mutation analysis, Carrier screening, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Familial dysautonomia (IKBKAP, Mutation analysis, Carrier screening, PGD)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

ISRAELE

ISRAEL
HOLON

Molecular diagnosis of Gaucher disease (GBA, Mutation analysis, Carrier detection)
Wolfson Medical Center
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare