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42 Result(s)

List of diseases tested (56)

45,X/46,XY mixed gonadal dysgenesis
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
46,XY complete gonadal dysgenesis
ARX-related epileptic encephalopathy
Alpers-Huttenlocher syndrome
Amyotrophic lateral sclerosis
Autoimmune polyendocrinopathy type 1
Autosomal dominant non-syndromic sensorineural deafness type DFNA
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive non-syndromic sensorineural deafness type DFNB
Björnstad syndrome
Bloom syndrome
Canavan disease
Combined immunodeficiency with granulomatosis
Early-onset generalized limb-onset dystonia
Facioscapulohumeral dystrophy
Familial Mediterranean fever
Familial dysautonomia
Familial hypoaldosteronism
Fanconi anemia
Fatal infantile cytochrome C oxidase deficiency
Fragile X syndrome
Fragile X-associated tremor/ataxia syndrome
GNE myopathy
GRACILE syndrome
Gaucher disease
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hereditary breast and ovarian cancer syndrome
Histiocytoid cardiomyopathy
Hypotonia with lactic acidemia and hyperammonemia
Isolated complex III deficiency
L1 syndrome
Leber hereditary optic neuropathy
Leigh syndrome
Leigh syndrome with cardiomyopathy
MELAS
MERRF
Maternally-inherited diabetes and deafness
Mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA-related progressive external ophthalmoplegia
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial non-syndromic sensorineural deafness
NARP syndrome
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
Palmoplantar keratoderma-deafness syndrome
Postsynaptic congenital myasthenic syndromes
Recessive mitochondrial ataxia syndrome
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Severe combined immunodeficiency due to adenosine deaminase deficiency
Short chain acyl-CoA dehydrogenase deficiency
Sialuria
Testicular regression syndrome
Tyrosinemia type 1
West syndrome
By clicking on the links above you will be redirected to the corresponding disease or gene page

Diagnostic test(s) performed in the laboratory (42)

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Adenosine deaminase deficiency (ADA, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Agenesis of corpus callosum with dysmorphism and fatal lactic adicosis (MRPS22, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of ARX-related disorders (ARX, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of APCED, polyglandular syndrome (AIRE, Mutation analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of combined oxidative phosphorylation deficiency (GFM1, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Dysferlinopathy (DYSF, Mutation analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Early-onset primary dystonia (DYT1, Mutation analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Facioscapulohumeral muscular dystrophy (Deletion/duplication analysis)Molecular diagnosis of Facioscapulohumeral muscular dystrophy (Deletion/duplication analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Familial hypoaldosteronism (gènes CYP11B2)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Familial Mediterranean Fever (MEFV, exon 10 sequencing, Mutation analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency (SCO2, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of FMR1-related syndromes (FMR1, Mutation analysis, Carrier screening)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Non-syndromic hearing loss (GJB2, GJB6, Mutation analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of GNE-related myopathies (GNE, Mutation analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Hereditary Breast/Ovarian Cancer (BRCA1, BRCA2, Mutation analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of L1 syndrome (L1CAM, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Leber hereditary optic neuropathy (Mitochondrial DNA, sequencing analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Leigh syndrome (COX10, SCO1, SCO2, SURF1, sequencing analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of MELAS (MT-TL1, sequencing analysis, Mutation analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of MELAS (MT -ND5, sequencing analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of MERRF (MT-TK, Mutation analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial cardiomyopathy (Mitochondrial DNA, Mutation analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial DNA depletion syndromes (TK2, SUCLA2, sequencing analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial DNA-associated Leigh syndrome and NARP (Mutation analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial respiratory chain complex III deficiency (BCS1L, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial respiratory chain complex III deficiency (UQCRB, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial respiratory chain complex III, cytochrome b subunit (MT-CYB, sequencing analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of MTRNR1-related hearing loss (MT-RNR1, sequencing analysis, Mutation analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of MTTS1-related hearing loss (MT-TS1, sequencing analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of POLG-related disorders (POLG, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Progressive external ophthalmoplegia with mitochondrial DNA deletions (SLC25A4, sequencing analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of congenital myasthenic syndrome (RAPSN, sequencing of promoter and exon 2, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Severe combined immunodeficiency, autosomal recessive (RAG1, RAG2, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Short chain acyl-CoA dehydrogenase deficiency (ACADS, Mutation analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of amyotrophic lateral sclerosis, ALS1 (SOD1, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Tyrosinemia type I (FAH, Mutation analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of 46,XX testicular disorder of sex development (SRY)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Bloom syndrome (BLM, Mutation analysis, Carrier screening, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Canavan disease (ASPA, Mutation analysis, Carrier screening, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Fanconi Anemia C (FANCC, Mutation analysis, Carrier screening, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Familial dysautonomia (IKBKAP, Mutation analysis, Carrier screening, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Gaucher disease (GBA, Mutation analysis, Carrier detection)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics