![[deutsche Flagge]](../Bilder/deutsch.gif){kind=small}
Search
Molecular Genetics
News:
Molecular Genetics
Unser Zentrum bietet derzeit molekulargenetische Analysen für folgende Erkrankungen an:
Gesamttabelle aller Erkrankungen: für die hier aufgelisteten Erkrankungen bietet unser Zentrum derzeit eine molekulargenetische Analysen an.
Nähere Informationen zu den bei uns angewendeten Methoden erhalten Sie hier.
Gesamttabelle aller Erkrankungen: für die hier aufgelisteten Erkrankungen bietet unser Zentrum derzeit eine molekulargenetische Analysen an.
Nähere Informationen zu den bei uns angewendeten Methoden erhalten Sie hier.
|
disease
|
OMIM
disease |
gene OMIM
(analysis methods¹) |
localisation
|
|
Craniofacial and Skeletal Dysplasias
(Genes and Diseases Selection)
|
|||
|
Contact: PD Dr. med. Ute Hehr, MD, Genetic counsellor ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
|
|||
|
Craniosynostosis, syndromal
|
|||
|
Apert Syndrome
|
10q26
|
||
|
Beare-Stevenson Cutis Gyrata Syndrome
|
10q26
|
||
|
Crouzon Syndrome (Craniofacial Dysostosis Type I)
|
10q26
|
||
|
Crouzon Syndrome with Acanthosis Nigricans
|
4p16.3
|
||
|
Jackson-Weiss Syndrome
|
10q26
|
||
|
Muenke Syndrome
|
4p16.3
|
||
|
Pfeiffer Syndrome (Acrocephalosyndactyly Type V)
|
8p11.2-p11.1
|
||
|
10q26
|
|||
|
4p16.3
|
|||
|
Saethre-Chotzen Syndrome (Acrocephalosyndactyly Type III)
|
4p16.3
|
||
|
7p21
|
|||
|
other
|
|||
|
Achondroplasia
|
4p16.3
|
||
|
Branchiootorenal Dysplasia
|
8q13.3
|
||
|
14q23
|
|||
|
19q13.3
|
|||
|
EEC Syndrome 3
|
3q27
|
||
|
Limb-Mammary Syndrome
|
3q27
|
||
|
Hay-Wells Syndrome (AEC Syndrome)
|
3q27
|
||
|
Popliteal Pterygium Syndrome
|
1q32-q41
|
||
|
Rapp-Hodgkin Syndrome
|
3q27
|
||
|
Treacher Collins-Franceschetti Syndrome
|
5q32-q33.1
|
||
|
Van der Woude Syndrome
|
1q32-q41
|
||
|
disease
|
OMIM
disease |
gene OMIM
(analysis methods¹) |
localisation
|
|
Ektodermal Dysplasias
(Genes and Diseases Selection)
|
|||
|
Contact: PD Dr. med. Ute Hehr, MD, Genetic counsellor ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
|
|||
|
EEC Syndrome 3
|
3q27
|
||
|
Ectodermal Dysplasia 1, anhidrotic, hypohidrotic, autosomal dominant
|
2q11-q13
|
||
|
Ectodermal Dysplasia 1, anhidrotic, hypohidrotic, autosomal recessive
|
2q11-q13
|
||
|
Ectodermal Dysplasia 1, anhidrotic, hypohidrotic, X linked
|
Xq12-q13.1
|
||
|
Limb-Mammary Syndrome
|
3q27
|
||
|
Hay-Wells Syndrome (AEC Syndrome)
|
3q27
|
||
|
Rapp-Hodgkin Syndrome
|
3q27
|
||
|
disease
|
OMIM
disease |
gene OMIM
(analysis methods¹) |
localisation
|
|
Reproductive Genetics
(Genes and Diseases Selection)
|
|||
|
Contact: PD Dr. med. Ute Hehr, MD, Genetic counsellor ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
|
|||
|
Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency
|
8q21
|
||
|
Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
|
CYP21
(S / MLPA)
|
6p21.3
|
|
|
Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase Deficiency
|
1p13.1
|
||
|
Androgen Insensitivity /Testicular Feminization Syndrome
|
Xq11-q12
|
||
|
CBAVD
|
CFTR
(36 Mutationen)
|
7q31.2
|
|
|
Kallmann Syndrome, autosomal dominant, KAL2
|
8p11.2-p11.1
|
||
|
Kallmann Syndrome, X chromosomal, KAL1
|
KAL1
(FISH / S)
|
Xp22.3
|
|
|
Ovarian Failure Hypergonadotropic / Ovarian Dysgenesis 1
|
2p21-p16
|
||
|
disease
|
OMIM
disease |
gene OMIM
(analysis methods¹) |
localisation
|
|
Brain Malformations and Congenital Muscular Dystrophies
(Genes and Diseases Selection) |
|||
|
Contact: PD Dr. med. Ute Hehr, MD, Genetic counsellor ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
|
|||
|
Andermann Syndrome
|
KCC3/SLC12A6
(K / S)
|
15q13-q14
|
|
|
Cerebral Cavernous Malformations
|
7q11.2-q21
|
||
|
7p13
|
|||
|
3q26.1
|
|||
|
Double Cortex-Syndrome / Lissencephaly X linked
|
Xq22.3-q23
|
||
|
Limb-girdle Muscular Dystrophy LGMD2I
|
FKRP
(K / S)
|
19q13.3
|
|
|
Limb-girdle Muscular Dystrophy LGMD2K
|
POMT1
(K / S)
|
9q34.1
|
|
|
Holoprosencephaly (HPE)
|
|
|
|
|
HPE2
|
2p21
|
||
|
HPE3
|
7q36
|
||
|
HPE4
|
18p11.3
|
||
|
|
|
2q14
|
|
|
HPE5
|
13q32
|
||
|
Lissenzephaly autosomal dominant
|
LIS1
(FISH / S / MLPA)
|
17p13.3
|
|
|
Muscle-eye-brain Disease
|
POMGnT1
(K / S)
|
1p34-p33
|
|
|
Fukuyama Congenital Muscular Dystrophy
|
FCMD
(K / S / FI)
|
9q31
|
|
|
Muscular Dystrophy, congenital MDC1C
|
FKRP
(K / S)
|
19q13.3
|
|
|
MDC1D
|
LARGE
(K / S)
|
22q12.3-q13.1
|
|
|
Partington Syndrome
|
Xp22.13
|
||
|
Periventricular Nodular Heterotopia
|
FLNA
(K / S / MLPA)
|
Xq28
|
|
|
Polymicrogyria, bilateral asymmetric
|
TUBB2B
(K / S)
|
6p25.2
|
|
|
Polymicrogyria, bilateral frontoparietal
|
GPR56
(K / S)
|
16q13
|
|
|
PROUD Syndrome
|
Xp22.13
|
||
|
Septooptic Dysplasia
|
3p21.2-p21.1
|
||
|
Walker-Warburg Syndrome
|
POMT1
(K / S)
|
9q34.1
|
|
|
POMT2
(K / S)
|
14q24.3
|
||
|
FCMD
(K / S / FI)
|
9q31
|
||
|
FKRP
(K / S)
|
19q13.3
|
||
|
LARGE
(K / S)
|
22q12.3-q13.1
|
||
|
RELN
(K)
|
7q22
|
||
|
Infantil Spasm Syndrome / WEST Syndrome, X linked
|
Xp22.13
|
||
|
XLAG
|
Xp22.13
|
||
|
disease
|
Phenotype
MIM number |
Symbol
|
gene
MIM-Nr. |
localisation
|
|
Retinal Disorders
(Genes and Diseases Selection)
|
||||
|
Contact: Prof. Dr. Bernhard Weber, Fachhumangenetiker (GfH) ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
|
||||
|
Einzel-Genuntersuchungen bei gezielter Fragestellung (akkreditiert nach DIN EN ISO 15189)²
|
||||
|
Achromatopsia
|
2q11.2
|
|||
|
8q21.3
|
||||
|
1p13.3
|
||||
|
Adult-onset vitelliform macular dystrophy (AVMD)
|
11q12.3
|
|||
|
6p21.1
|
||||
|
Gyrate atrophy
|
10q26.13
|
|||
|
autosomal dominant Vitreoretinochoroidopathy (ADVIRC)
|
11q12.3
|
|||
|
Bestrophinopathy, autosomal recessive
|
11q12.3
|
|||
|
Bietti crystalline corneoretinal dystrophy
|
4q35.2
|
|||
|
Choroideremia
|
Xq21.2
|
|||
|
Doyne honeycomb retinal dystrophy
|
2p16.1
|
|||
|
Fundus albipunctatus
|
6p21.1
|
|||
|
12q13.2
|
||||
|
3q22.1
|
||||
|
15q26.1
|
||||
|
Night blindness, congenital stationary, autosomal dominant
|
3p21.31
|
|||
|
Night blindness, congenital stationary, X-linked
|
Xp11.4
|
|||
|
Leber congenital amaurosis (LCA)
|
6q14.1
|
|||
|
Hypotrichosis, congenital, with juvenile macular dystrophy
|
16q22.1
|
|||
|
16q22.1
|
||||
|
Macular dystrophy, vitellifom (Best macular dystrophy)
|
11q12.3
|
|||
|
6p21.1
|
||||
|
11q12.3
|
||||
|
Norrie disease
|
Xp11.3
|
|||
|
Optic atrophy, autosomal dominant
|
3q29
|
|||
|
3q29
|
||||
|
Retinitis pigmentosa, X-linked
|
Xp11.23
|
|||
|
Xp11.4
|
||||
|
Retinoschisis, X-linked, juvenile
|
Xp22.13
|
|||
|
Fundus dystrophy of Sorsby
|
22q12.3
|
|||
|
Cone dystrophy with night blindness and supernormal rod responses
|
9p24.2
|
|||
|
Modulare Array-Analysen von Gen-Gruppen (nicht akkreditiert)³
|
||||
|
• Untersuchung mit Affymetrix-basiertem Resequenzierarray (RetChip v1.0)
|
||||
|
Module Stargardt disease
|
||||
|
|
1p22.1
|
|||
|
8q21.3
|
||||
|
6q14.1
|
||||
|
Module cone-rod dystrophy
|
||||
|
|
1p22.1
|
|||
|
|
17p13.2
|
|||
|
2q31.3
|
||||
|
8q21.3
|
||||
|
19q13.33
|
||||
|
6p21.1
|
||||
|
17p13.1
|
||||
|
9p24.2
|
||||
|
4p15.32
|
||||
|
6p21.1
|
||||
|
12q13.2
|
||||
|
6q13
|
||||
|
Xp11.4
|
||||
|
14q11.2
|
||||
|
1q22
|
||||
|
Module exudative vitreoretinopathy
|
||||
|
|
11q14.2
|
|||
|
11q13.2
|
||||
|
Xp11.3
|
||||
|
Module retinitis pigmentosa (includes adRP, arRP, XLRP, LCA, and CSNB)
|
||||
|
|
1p22.1
|
|||
|
17p13.2
|
||||
|
17q23.1
|
||||
|
12q21.32
|
||||
|
2q31.3
|
||||
|
4p12
|
||||
|
16q21
|
||||
|
1q31.3
|
||||
|
1q31.3
|
||||
|
19q13.33
|
||||
|
19q13.33
|
||||
|
17q25.3
|
||||
|
13q34
|
||||
|
6p21.1
|
||||
|
17p13.1
|
||||
|
7q32.1
|
||||
|
7q32.1
|
||||
|
4q32.1
|
||||
|
2q13
|
||||
|
15q23
|
||||
|
14q11.2
|
||||
|
5q32
|
||||
|
4p16.3
|
||||
|
4p16.3
|
||||
|
17q25.1
|
||||
|
4p15.32
|
||||
|
1q21.2-q21.3
|
||||
|
19q13.42
|
||||
|
17p13.3
|
||||
|
6p21.1
|
||||
|
6p21.1
|
||||
|
14q24.1
|
||||
|
10q23.1
|
||||
|
3q22.1
|
||||
|
3q22.1
|
||||
|
3q22.1
|
||||
|
15q26.1
|
||||
|
15q26.1
|
||||
|
15q26.1
|
||||
|
11q12.3
|
||||
|
8q12.1
|
||||
|
Xp11.23
|
||||
|
7p14.3
|
||||
|
1p31.3-p31.2
|
||||
|
1p31.3-p31.2
|
||||
|
Xp11.4
|
||||
|
Xp11.4
|
||||
|
Xp11.4
|
||||
|
14q11.2
|
||||
|
2q37.1
|
||||
|
2q37.1
|
||||
|
1q22
|
||||
|
14q31.3
|
||||
|
8q12.3
|
||||
|
6p21.31
|
||||
|
6p21.31
|
||||
|
1q41
|
||||
|
• APEX-Chip, Analyse bekannter Mutationen (Asper Biotech, Tartu Estland)
|
|
Usher syndrome
|
||||
|
|
10q22.1
|
|||
|
3q25.1
|
||||
|
5q14.3
|
||||
|
11q13.5
|
||||
|
10q21.1
|
||||
|
17q25.1
|
||||
|
11p15.1
|
||||
|
1q41
|
||||
|
Bardet-Biedl syndrome (BBS)
|
||||
|
|
2p13.1
|
|||
|
3q11.2
|
||||
|
11q13.2
|
||||
|
16q12.2
|
||||
|
15q24.1
|
||||
|
2q31.1
|
||||
|
4q27
|
||||
|
12q21.2
|
||||
|
4q27
|
||||
|
20q13.32
|
||||
|
20p12.2
|
||||
|
7p14.3
|
||||
|
14q31.3
|
||||
|
disease
|
OMIM
disease |
gene OMIM
(analysis methods¹) |
localisation
|
|
Neurodegenerative Disorders
(Genes and Diseases Selection)
|
|||
|
Contact: PD Dr. med. Ute Hehr, MD, Genetic counsellor ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
|
|||
|
Andermann Syndrome
|
KCC3/SLC12A6
(K / S)
|
15q13-q14
|
|
|
CADASIL Syndrome
|
19p13.2-p13.1
|
||
|
Spinal and Bulbar Muscular Atrophy / Kennedy Disease
|
Xq11-q12
|
||
|
Spastic Paraplegia 4, autosomal dominant
|
2p22-p21
|
||
|
Spastic Papaplegia 11, autosomal rezessive
|
(K)
|
15q13-q15
|
|
|
Spastic Paraplegia 20 / Troyer Syndrome, autosomal rezessive
|
13q12.3
|
||
|
disease
|
OMIM
disease |
gene OMIM
(analysis methods¹) |
localisation
|
|
Metabolic Disorders
(Genes and Diseases Selection)
|
|||
|
Contact: PD Dr. med. Ute Hehr, MD, Genetic counsellor ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
|
|||
|
Familial intrahepatic cholestasis
|
|||
|
Benign recurrent intrahepatic cholestasis (BRIC1, BRIC2)
|
18q21
|
||
|
2q24
|
|||
|
Intrahepatic cholestasis of pregnancy)
|
7q21.1
|
||
|
18q21
|
|||
|
Progressive low γ-GT familial intrahepatic cholestasis (PFIC1, PFIC2, PFIC3)
|
18q21
|
||
|
2q24
|
|||
|
7q21.1
|
|||
|
thrombophilia (4 Mutations):
|
|||
|
Factor V-Leiden Mutation (1691G>A)
|
|
F5:
1691G>A
|
1q23
|
|
MTHFR 677C>T
|
|
MTHFR:
677C>T
|
1p36.3
|
|
MTHFR 1298A>C
|
|
MTHFR:
1298A>C
|
1p36.3
|
|
Prothrombin Mutation (20210G>A)
|
|
F2:
20210G>A
|
11p11-q12
|
|
Other
|
|||
|
Glucose-6-Phosphate Dehydrogenase Deficiency
|
Xq28
|
||
|
Cystic Fibrosis
|
CFTR
(36 Mutationen / S)
|
7q31.2
|
|
|
Surfactant metabolism dysfunction-3 (SMDP3)
|
16p13.3
|
||
|
disease
|
OMIM
disease |
gene OMIM
(analysis methods¹) |
localisation
|
|
Hereditary Cancer Syndromes
(Genes and Diseases Selection)
|
|||
|
Contact: Prof. Dr. Bernhard Weber, Fachhumangenetiker (GfH) ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
|
|||
|
Cowden-Syndrome
|
10q23.31
|
||
|
Familial Adenomatous Polyposis (FAP)
|
5q22.2
|
||
|
Familial Breast and Ovarian Cancer
|
17q21.31
|
||
|
13q13.1
|
|||
|
Hereditary Melanoma
|
9p21.3
|
||
|
Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
|
3p22.2
|
||
|
2p21
|
|||
|
2p16.3
|
|||
|
MYH-associated polyposis
|
1p34.1
|
||
|
Li-Fraumeni Syndrome
|
17p13.1
|
||
|
Von-Hippel-Lindau-Syndrome
|
3p25.3
|
||
|
disease
|
OMIM
disease |
gene OMIM
(analysis methods¹) |
localisation
|
|
Other Diseases
(Genes and Diseases Selection)
|
|||
|
Contact: Prof. Dr. Bernhard Weber, Fachhumangenetiker (GfH) ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
|
|||
|
Geschlechtsbestimmung
|
|
AMXY
|
|
|
Failure of Tooth Eruption, primary
|
3p21.31
|
||
¹
Routinely analysis is performed by sequencing, additional methods are indicated as follows:
FISH
Fluorescence in situ Hybridisation
FI
3 kb-founder-insertion
²
Untersuchung mittels Sanger-Sequenzierung und ggfs. MLPA.
³
Auffällige Sequenzveränderungen bei der Array-Untersuchungen werden mittels Sanger-Sequenzierung (akkreditiert nach DIN EN ISO 15189) überprüft.