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32 Resultaat/Resultaten

DIAGNOSTISCHE TEST UITGEVOERD IN HET LABORATORIUM (32)

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Achondroplasia (FGFR3, mutation analysis)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Huntington Chorea (HTT, Mutation analysis, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Ichthyosis, X-linked (STS gene)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of PhenylKetonuria (PAH, Mutation analysis, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Bloom Syndrome (BLM, Mutation analysis, Carrier screening)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Canavan Disease (ASPA, Mutation analysis, Carrier screening, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Familial Dysautonomia (IKBKAP, Mutation analysis, Carrier screening, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Fanconi anemia type A (FANCA, Mutation analysis, Carrier screening)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Fanconi Anemia type C (FANCC, Mutation analysis, Carrier screening)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Gaucher disease (GBA, Mutation analysis, Carrier detection)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Glycogen Storage disease Ia (G6Pase, Mutation analysis, Carrier screening, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Limb-Girdle Muscular Dystrophy (DYSF, Mutation analysis, Carrier detection)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Maple Syrup Urine Disease- MSUD (BCKDHB, Mutation analysis, Carrier screening)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Metachromatic leukodystrophy (ARSA, Mutation analysis, Carrier screening)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Nemaline myopathy (NEB, Mutation analysis, Carrier screening, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Niemann Pick -Type A (SMPD1, Mutation analysis, Carrier screening)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of DFNB1 non-syndromic hearing loss (GJB2, GJB6, Mutation analysis, Carrier detection, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Costeff Optic Atrophy Syndrome (3MGA) (OPA3, Mutation analysis, Carrier screening, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Fragile X syndrome (FRM1, Mutation analysis, Carrier screening, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Usher syndrome type I (PCDH15, Mutation analysis, Carrier screening)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Colon cancer (APC, MSH2, Mutation analysis, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Hereditary Breast/Ovarian Cancer (BRCA1, BRCA2, Mutation analysis, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Von Hippel-Lindau (VHL, full Sequencing, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Rett Syndrome (MECP2, Sequencing)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Torsion dystonia (DYT1, Mutation analysis, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Alpha 1 antitrypsin deficiency (SERPINA1, Mutation analysis, carrier detection, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Ataxia Telangiectasia (ATM, Mutation analysis, Carrier screening, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Cystic fibrosis disease (CFTR, Mutation analysis, Carrier screening, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Glycogen Storage disease IIIa (AGL, Mutation analysis, Carrier detection)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Tay Sachs (HEXA, Mutation analysis, Carrier screening, PGD)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ISRA╦L

ISRAEL
RAMAT GAN

Molecular diagnosis of Deafness (mitochondrial) (MTRNR1)
Sheba Medical Center
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica