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SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of hyperlipidemia type 3 (APOE gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of cystic fibrosis (CFTR gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of homocystinuria due to methylenetetrahydrofolate reductase deficiency (MTHFR gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of alpha-thalasemia (HBA1, HBA2 genes)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of beta-thalasemia (gene HBB)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of congenital factor II deficiency (F2 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Apert syndrome (FGFR2 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Crouzon syndrome (FGFR2 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Pfeiffer syndrome (FGFR1 and FGFR2 genes)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Jackson-Weiss syndrome (FGFR2 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of cutis gyrata acanthosis nigricans craniosynostosis (FGFR2 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Muenke Syndrome (FGFR3 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Saethre-Chotzen syndrome (FGFR3 and TWIST genes)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of sarcoidosis (HLA-DRB1 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of pemphigus vulgaris (HLA class II)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of chromosome Y deletion
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Mediterranean fever (MEFV gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of nephroblastoma (WT1 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Denys-Drash syndrome (WT1 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Frasier syndrome (WT1 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of mesangial sclerosis diffuse (WT1 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of MASA syndrome (L1CAM gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of X-linked spastic paraplegia, type 2 (PLP1 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of autosomal dominant spastic paraplegia type 3 (SPG3A gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of autosomal dominant spastic paraplegia type 4 (gene SPAST)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of autosomal dominant spastic paraplegia, type 6 (NIPA1 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of autosomal recessive spastic paraplegia type 7 (SPG7 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of autosomal dominant spastic paraplegia, type 10 (KIF5A gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of autosomal dominant spastic paraplegia type 13 (HSP60 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of autosomal dominant spastic paraplegia type 17 (SCL2 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing