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AUSTRIA

WIEN
WIEN

Diagnosis of TRAPS syndrome (TNFRSF1A gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnostik der Hyperimmunglobulinämie D mit Rückfallfieber (MVK Gen)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of cryopyrin-associated periodic syndrome (NLRP3 gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of Blau syndrome (NOD2 gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of autoimmune polyendocrinopathy type 1 (AIRE gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular cytogenetic analysis of acute lymphoblastic leukemia (t(9;22)(q34;q11), t(12;21)(p13;q22), t(11;14)(q13;q32), rearrangements of MLL (11q23), SIL/TAL (1p32), ALK (2p23), TCRa (14q11), E2A(19p13), AML1-amplification (21q22), hyperdiploidy; further analyses upon request)
Labordiagnostik GmbH
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : M-FISH/SKY, FISH

AUSTRIA

WIEN
WIEN

Molecular cytogenetic analysis of acute myeloid leukemia (t(8;21)(q22;q22), t(15;17)(q22;q11), inv(3), inv(16), -7/7q-, +8, +21, 9p-, rearrangements of AML1 (21q22); further analyses upon request)
Labordiagnostik GmbH
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : M-FISH/SKY, FISH

AUSTRIA

WIEN
WIEN

Molecular cytogenetic analysis of myelodysplastic syndromes (-5/5q-, -7/7q-, +8, 20q-)
Labordiagnostik GmbH
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : M-FISH/SKY, FISH

AUSTRIA

WIEN
WIEN

Molecular cytogenetic diagnosis of myeloproliferative neoplasms (t(9;22)(q34;q11); BCR-ABL amplification, +8, +9, +21, -5/5q-, -7/7q-, 20q-, 13q-, 12p-, i(17q), CHIC2-deletion (FIP1L1/PDGFRa rearrangement), rearrangements of PDGFRa, -b, FGFR1; further analyses upon request)
Labordiagnostik GmbH
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : M-FISH/SKY, FISH

AUSTRIA

WIEN
WIEN

Molecular cytogenetic analysis of Non-Hodgkin lymphoma (t(11;14)(q13;q32), t(14;18)(q32,q21), t(11;14)(p13;q11), t(11;18)(q21;q21), t(8;14)(q24;q32), rearrangements of IgH (14q32), IgK(2p12), cMYC (8q24), TCRa (14q11), IgL (22q11); further analyses upon request)
Labordiagnostik GmbH
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : M-FISH/SKY, FISH

AUSTRIA

WIEN
WIEN

Molecular cytogenetic diagnosis of chronic lymphoid leukemia (-13/13q-, 11q- (ATM), +12, -p53 (17p13), IgH rearrangement; further analyses upon request)
Labordiagnostik GmbH
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : M-FISH/SKY, FISH

AUSTRIA

WIEN
WIEN

Molecular cytogenetic diagnosis of multiple myeloma (-13/13q-, -p53 (17p13), t(11;14)(q13;q32), t(4;14)(p12;q32), IgH rearrangement; cIg-FISH (labeling of plasma cells by staining of light chains); further analyses upon request)
Labordiagnostik GmbH
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : M-FISH/SKY, FISH

AUSTRIA

WIEN
WIEN

Diagnosis of Achondroplasia (FGFR3 gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

AUSTRIA

WIEN
WIEN

Diagnosis of Alagille syndrome (JAG1 gene)
Labordiagnostik GmbH
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

AUSTRIA

WIEN
WIEN

Diagnosis of congenital amegakaryocytic thrombocytopenia (MPL gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of Apert syndrome (FGFR2 gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular genetic analysis of the ALS2 gene
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of Angelman syndrome (SNRPN gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

AUSTRIA

WIEN
WIEN

Diagnosis of Charcot-Marie-Tooth disease type 4H (FGD4 gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of Charcot-Marie-Tooth disease type 4C (SH3TC2 gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of Charcot-Marie-Tooth disease type 2A (MFN2 gene)
Labordiagnostik GmbH
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

AUSTRIA

WIEN
WIEN

Diagnosis of Carney complex (PRKAR1A gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (PRG4 gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of Borjeson-Forssman-Lehmann syndrome (PHF6 gene)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of CHARGE syndrome (CHD7 gene)
Labordiagnostik GmbH
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

AUSTRIA

WIEN
WIEN

Diagnosis of Blackfan-Diamond anemia (genes: RPL5/11/15/26/27/31/35A; RPS7/10/17/19/24/26/27/28/29; GATA1; TSR2)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of BOR syndrome (EYA1, SIX5, and SIX1 genes)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Y chromosome deletions (AZF)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

AUSTRIA

WIEN
WIEN

Diagnosis of Bernard-Soulier syndrome (GP1BA, GP1BB, and GP9 genes)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of Beckwith-Wiedemann syndrome (H19 and KCNQ1OT1 genes)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

AUSTRIA

WIEN
WIEN

Diagnosis of congenital nephrotic syndrome (NPHS1, NPHS2, and WT1 genes)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing