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53 Result(s)

List of diseases tested (94)

1p36 deletion syndrome
22q11.2 deletion syndrome
46,XX testicular disorder of sex development
46,XY complete gonadal dysgenesis
47,XYY syndrome
Acute lymphoblastic leukemia
Acute megakaryoblastic leukemia
Acute monoblastic leukemia
Acute myeloid leukaemia with myelodysplasia-related features
Acute myeloid leukemia
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Amelogenesis imperfecta
Angelman syndrome
Atypical Norrie disease due to Xp11.3 microdeletion
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 31
Autosomal dominant spastic paraplegia type 4
Autosomal uniparental disomy
B-cell chronic lymphocytic leukemia
Cat-eye syndrome
Channelopathy-associated congenital insensitivity to pain
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1E
Chronic eosinophilic leukemia
Chronic myeloid leukemia
Cystic fibrosis
Cytomegalic congenital adrenal hypoplasia
Dejerine-Sottas syndrome
Down syndrome
Duchenne muscular dystrophy
Emanuel syndrome
Familial dysautonomia
Focal dermal hypoplasia
Generalized epilepsy with febrile seizures-plus
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary motor and sensory neuropathy type 6
Hereditary neuropathy with liability to pressure palsies
Hereditary sensory and autonomic neuropathy type 1
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Hereditary sensory and autonomic neuropathy type 6
Hereditary spastic paraplegia
Huntington disease
Hypereosinophilic syndrome
Isochromosome Y
Jalili syndrome
Juvenile Huntington disease
Kallmann syndrome
Microphthalmia with linear skin defects syndrome
Miller-Dieker syndrome
Monosomy 5p
Mosaic trisomy 16
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
Multiple myeloma
Myelodysplastic syndrome
Myelodysplastic/myeloproliferative disease
NON RARE IN EUROPE: Unexplained intellectual disability
Neural tube defect
Paroxysmal extreme pain disorder
Partial autosomal trisomy/tetrasomy
Partial chromosome Y deletion
Prader-Willi syndrome
Primary erythromelalgia
Rare chromosomal anomaly
Rare genetic disease
Recessive X-linked ichthyosis
Roussy-Lévy syndrome
Rubinstein-Taybi syndrome
Sex-chromosome number anomaly
Smith-Magenis syndrome
Sodium channelopathy-related small fiber neuropathy
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 3
Spinocerebellar ataxia type 6
Tetrasomy 12p
Total autosomal trisomy
Trisomy 13
Trisomy 18
Trisomy X
Turner syndrome
Williams syndrome
Wolf-Hirschhorn syndrome
X small rings
X-linked Charcot-Marie-Tooth disease type 1
X-linked intellectual disability-retinitis pigmentosa syndrome
Xp21 microdeletion syndrome
Xp22.3 microdeletion 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 (53)

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of uniparental disomy (6, 7, 11, 13, 14, 15, 16, 18, 21; others on request)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Wolf-Hirschhorn syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of deletion 5p
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Williams syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Angelman syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Uniparental disomy study, Methylation analysis, Detection of chromosome alterations large in size
Technique(s) : MLPA based techniques, FISH, Microsatellite analysis

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Prader-Willi syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : MLPA based techniques, FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Rubinstein-Taybi syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Miller-Dieker syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Smith-Magenis syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of DiGeorge syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of X-linked ichthyosis (STS gene)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Kallmann syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Pallister-Killian syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH, Karyotyping

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Cat-eye syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Xp deletions
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of deletion 1p36
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of XX male syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of cystic fibrosis
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Huntington disease (HTT gene)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of multiple myeloma (p53 + cep 17, deletion 13q14, t(4;14)(p16;q32), t(11;14)(q13;q32))
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of chronic lymphocytic leukemia (p53 deletions (17p13), ATM gene loss (11q22.3), 13q14 deletion, IGH rearrangements, trisomy 12, 6q21 deletion)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH, Karyotyping

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of acute myelogenous leukemia (t(15;17) in AML M3, t(8;21) in AML M2/M4, inv(16), t(16;16) in AML M4eo, monosomy 5/ 5q deletion, monosomy 7/ 7q deletion, MLL-splitting (11q23))
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH, Karyotyping

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of acute lymphoblastic leukemia (BCR/ABL t(9;22), IGH rearrangements)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of chronic myeloid leukemia (BCR/ABL t(9;22), PDGFRA (4q12), PDGFRB (5q33))
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Rapid FISH on interphase nuclei and STR prenatal rapid test to detect specific trisomies (numeric aberration of 13/18/21/X/Y)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Prenatal diagnosis of neural tube defects and other malformations by biochemical methods (AFP test)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of aneuploidia (all chromosomes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : M-FISH/SKY, Array based techniques, FISH, Karyotyping

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Y chromosome deletions (AZF)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of gonadal dysgenesis, XY female type
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH, Karyotyping

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of myeloproliferative disorders (PDGFRA and PDGFRB gene aberrations)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH, Karyotyping

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of myelodysplastic syndromes (del(5q), del(7q), +8)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH, Karyotyping

GERMANY

Thüringen
JENA

Accreditation
Molecular cytogenetic characterization of small supernumerary marker chromosomes
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Amelogenesis imperfecta (AMELX, CNNM4, DLX3, ENAM, FAM83H, KLK4, MMP20, WDR72 genes) - on request
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Array-CGH and subtelomer screening in patients with unexplained intellectual deficit
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of hereditary motor and sensory neuropathy type 1 (ATL1, ATL3, SPTLC1, SPTLC2 genes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of hereditary sensory and autonomic neuropathy type 2 (FAM134B, KIF1A, SCN9A, WNK1 genes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of hereditary motor and sensory neuropathy type 3 (IKBKAP gene)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of hereditary sensory and autonomic neuropathy type 4 (NTRK1 gene)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Charcot-Marie-Tooth disease type 1A, B, E (MPZ and PMP22 genes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Dejerine-Sottas syndrome (MPZ and PMP22 genes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of Roussy-Levy syndrome (MPZ and PMP22 genes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of X linked Charcot-Marie-Tooth syndrome type 1 (GJB1 gene)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2A2 (MFN2 gene)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of familial spastic paraplegia SPG3A, SPG4 and SPG31 (ATL1, REEP1, SPAST genes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of multiple endocrine neoplasia (MEN1 and RET genes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of SCN9A gene associated pain disorders
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of spinocerebellar ataxia type 1-3, 6, 7 (ATXN1-3, CACNA1A genes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of chronic eosinophilic leukemia (PDGFRA (4q12), PDGFRB (5q33))
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH, Karyotyping

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of hereditary motor and sensory neuropathy type 6 (MFN2 gene)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of hereditary sensory and autonomic neuropathy type 5 (NGF, NTRK1 genes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of hereditary sensory and autonomic neuropathy type 6 (DST gene)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of predisposition to breast and ovarian cancer (BRCA1 and BRCA2 genes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing