| nicht verifiziert 1p Microdeletion Syndrome | | | |
| | Kontaktperson email , Tel 06132-781 411 Fax 06132-781 194 | | | |
|
COL2A1 | ACHONDROGENESIS, TYPE 2 | 200610 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
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FGFR3 | ACHONDROPLASIA; ACH | 100800 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
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GDF5 | ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE | 201250 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
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PML RARA | ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML | 102578 | - Single copy FISH (kommerzielle Sonden)
- Interphase FISH
- Vielfarben FISH mit regionenspezifischen Sonden
- PCR-Analyse
- quantitative PCR (realtime PCR)
| |
| Spezifikation - Zytogenetisch
- Molekulargenetisch
- Tumor Zytogenetisch
- Molekular Zytogenetisch
| | | | |
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ALMS1 | Alstrom Syndrome | 203800 | | |
| | | | | |
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AN2 | ANIRIDIA, TYPE II; AN2 | 106210 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
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APOE | APOLIPOPROTEIN E; APOE | 107741 | | |
| | | | | |
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BCL2 IGHJ | B-CELL CLL/LYMPHOMA 2; BCL2 | 151430 | - Single copy FISH (kommerzielle Sonden)
- Interphase FISH
- Vielfarben FISH mit regionenspezifischen Sonden
- PCR-Analyse
- quantitative PCR (realtime PCR)
| |
| Spezifikation - Zytogenetisch
- Molekulargenetisch
- Tumor Zytogenetisch
- Molekular Zytogenetisch
| | | | |
|
BCL1 CCND1 IGHJ | B-CELL LYMPHOMA | | - Interphase FISH
- Vielfarben FISH mit regionenspezifischen Sonden
- PCR-Analyse
- quantitative PCR (realtime PCR)
| |
| Spezifikation - Zytogenetisch
- Molekulargenetisch
- Tumor Zytogenetisch
- Molekular Zytogenetisch
| | | | |
|
BWCR CDKN1C H19 | BECKWITH-WIEDEMANN SYNDROME; BWS | 130650 | - Sanger-Sequenzierung
- DNA-Methylierung
| |
| | | | | |
|
GDF5 | BRACHYDACTYLY, TYPE C; BDC | 113100 | | |
| | | | | |
|
MYBPC3 MYH7 TNNT2 | CARDIOMYOPATHY, DILATED, 1A; CMD1A | 115200, 606685, 611615 | | |
| | | | | |
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| CATECHOL-O-METHYLTRANSFERASE; COMT | 116790 | | |
| | | | | |
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NOTCH3 | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS
AND LEUKOENCEPHALOPATHY; CADASIL | 125310 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
GDF5 | CHONDRODYSPLASIA, GREBE TYPE | 200700 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
CLCNKB | Classic Bartter syndrome | 607364 | - MLPA (Multiple Ligation-dependent Probe Amplification
| |
| | | | | |
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RUNX2 | CLEIDOCRANIAL DYSPLASIA; CCD | 119600 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
F2 | COAGULATION FACTOR II; F2 | 176930 | - Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| | | | | |
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| CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY | 218030 | | |
| | | | | |
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| CRI-DU-CHAT SYNDROME | 123450 | - Single copy FISH (kommerzielle Sonden)
| |
| Spezifikation - Pränatale Diagnostik
- Zytogenetisch
- Molekular Zytogenetisch
| | | | |
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UGT1A1 | CRIGLER-NAJJAR SYNDROME | 218800 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
FGFR1 FGFR2 FGFR3 | CROUZON SYNDROME | 123500 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
CFTR | CYSTIC FIBROSIS; CF | 219700 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
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UMOD | cystic kidney disease, autosomal dominant medullary, type 2 | 603860 | | |
| | | | | |
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MYH9 | Deafness, autosomal dominant nonsyndromic sensorineural 17; DFNA 17 | 603622 | | |
| | | | | |
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GJB2 GJB6 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3; DFNA3 | 601544 | | |
| | | | | |
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COCH | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9; DFNA9 | 601369 | | |
| | | | | |
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GJB2 GJB6 | DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1 | 220290 | | |
| | | | | |
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DES | DESMINOPATHY, PRIMARY | 601419 | | |
| | | | | |
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AQP2 | DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT | 125800 | | |
| | | | | |
|
| DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED | 304800 | | |
| | | | | |
|
AVP | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE | 125700 | | |
| | | | | |
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DGSI TUPLE 1 | DIGEORGE SYNDROME; DGS | 188400 | - Single copy FISH (kommerzielle Sonden)
- Vielfarben FISH mit regionenspezifischen Sonden
| |
| Spezifikation - Anmeldung erforderlich
- Pränatale Diagnostik
- Zytogenetisch
- Molekular Zytogenetisch
| | | | |
|
DGS2 | DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME SPECTRUM OF MALFORMATION 2 | 601362 | - Single copy FISH (kommerzielle Sonden)
- CGH (Comparative Genome Hybridisation)
| |
| Spezifikation - Pränatale Diagnostik
- Zytogenetisch
- Molekular Zytogenetisch
| | | | |
|
| DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD | 274270 | | |
| | | | | |
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SCN1A | DRAVET SYNDROME | 607208 | | |
| | | | | |
|
PLA2G6 | Dystonia 3, Torsion, X-linked; DYT3 | 314250 | | |
| | | | | |
|
GCH1 | DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION | 128230 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| | | | | |
|
COL1A1 COL1A2 | EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT | 130060 | | |
| | | | | |
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| FABRY DISEASE | 301500 | | |
| | | | | |
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F5 | FACTOR V DEFICIENCY | 227400 | - Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| | | | | |
|
MEFV | FAMILIAL MEDITERRANEAN FEVER; FMF | 249100 | | |
| | | | | |
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MYCN | Feingold syndrome | 164280 | | |
| | | | | |
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ACTN4 | Focal segmental glomerulosclerosis 1; FSGS1 | 603278 | | |
| | | | | |
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TRPC6 | Focal segmental glomerulosclerosis 2 | 603965 | | |
| | | | | |
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CD2AP | Focal segmental glomerulosclerosis 3; FSGS3 | 607832 | | |
| | | | | |
|
FMR1 | FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1 | 309550 | - PCR-Analyse
- Triplett-Repeat-Expansion
- Southern-Blot
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
WT1 | FRASIER SYNDROME | 136680 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
FLNA | FRONTOMETAPHYSEAL DYSPLASIA; FMD | 305620 | | |
| | | | | |
|
| FRUCTOSE INTOLERANCE, HEREDITARY | 229600 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
GJB3 | GAP JUNCTION PROTEIN, BETA-3; GJB3 | 603324 | | |
| | | | | |
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UGT1A1 | GILBERT SYNDROME | 143500 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
SLC12A3 | GITELMAN SYNDROME | 263800 | | |
| | | | | |
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MC2R | GLUCOCORTICOID DEFICIENCY 1; GCCD1 | 202200 | | |
| | | | | |
|
MRAP | Glucocorticoid deficieny 2 | 607398 | | |
| | | | | |
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G6PD | GLUCOSE-6-PHOSPHATE DEHYDROGENASE | 305900 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
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TBX5 | HOLT-ORAM SYNDROME; HOS | 142900 | | |
| | | | | |
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MTHFR | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE
REDUCTASE ACTIVITY | 236250 | | |
| | | | | |
|
MVK | HYPER-IgD SYNDROME; HIDS | 260920 | | |
| | | | | |
|
LDLR | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT | 143890, 603776 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
ACE | HYPERTENSION, ESSENTIAL | 145500 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CASR | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 (sowie Typ III; HHC3) | 145980, 600740 | | |
| | | | | |
|
FGFR3 | HYPOCHONDROPLASIA; HCH | 146000 | | |
| | | | | |
|
LCT | HYPOLACTASIA, ADULT TYPE | 223100 | | |
| | | | | |
|
GATA3 | Hypoparathyroidism, Sensorineural Deafness, and Renal Disease | 146255 | | |
| | | | | |
|
FOXP3 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | 304790 | | |
| | | | | |
|
CARD15 | INFLAMMATORY BOWEL DISEASE 1; IBD1 | 266600 | - Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| | | | | |
|
NTRK1 | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA | 256800 | | |
| | | | | |
|
FGFR1 FGFR3 | JACKSON-WEISS SYNDROME; JWS | 123150 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
KCNE1 KCNQ1 | JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1 | 220400 | | |
| | | | | |
|
DYNC2H1 IFT80 WDR19 | Jeune syndrome | 208500 | | |
| | | | | |
|
| KALLMANN SYNDROME 1; KAL1 | 308700 | | |
| | | | | |
|
FGFR1 | Kallmann Syndrome 2 | 147950 | | |
| | | | | |
|
| Kallmann syndrome 3 | 244200 | | |
| | | | | |
|
| Kallmann syndrome 4 | 610628 | | |
| | | | | |
|
| Kallmann syndrome 5 | 612370 | | |
| | | | | |
|
| Kallmann syndrome 6 | 612702 | | |
| | | | | |
|
COL2A1 | KNIEST DYSPLASIA | 156550 | | |
| | | | | |
|
SHOX | LANGER MESOMELIC DYSPLASIA | 249700 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
PTPN11 | LEOPARD SYNDROME | 151100 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
SHOX | LERI-WEILL DYSCHONDROSTEOSIS; LWD | 127300 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
AML1 ETO | Leukemia (acute myeloid, M2 subtype) | | - Single copy FISH (kommerzielle Sonden)
- Interphase FISH
- Vielfarben FISH mit regionenspezifischen Sonden
- PCR-Analyse
- quantitative PCR (realtime PCR)
| |
| Spezifikation - Zytogenetisch
- Molekulargenetisch
- Tumor Zytogenetisch
- Molekular Zytogenetisch
| | | | |
|
ATM BCL1 p53 | LEUKEMIA, CHRONIC LYMPHOCYTIC , B-CLL | 151400 | - Single copy FISH (kommerzielle Sonden)
- Interphase FISH
| |
| Spezifikation - Zytogenetisch
- Tumor Zytogenetisch
- Molekular Zytogenetisch
| | | | |
|
ABL BCR | LEUKEMIA, CHRONIC MYELOID; CML | 608232 | - Multiplex-PCR
- Single copy FISH (kommerzielle Sonden)
- WCP (Paint FISH)
- Interphase FISH
- Vielfarben FISH mit regionenspezifischen Sonden
| |
| Spezifikation - Zytogenetisch
- Molekulargenetisch
- Tumor Zytogenetisch
- Molekular Zytogenetisch
| | | | |
|
| LISSENCEPHALY I; LIS1 | 607432 | - Single copy FISH (kommerzielle Sonden)
- Vielfarben FISH mit regionenspezifischen Sonden
- PCR-Analyse
| |
| Spezifikation - Zytogenetisch
- Molekulargenetisch
- Molekular Zytogenetisch
| | | | |
|
FBN1 TGFBR1 TGFBR2 | MARFAN SYNDROME; MFS | 154700 | | |
| | | | | |
|
SIL1 | Marinesco-Sjogren Syndrome | 248800 | | |
| | | | | |
|
HNF4A | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1 | 125850 | | |
| | | | | |
|
GCK | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2 | 125851 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
HNF1A | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3 | 600496 | | |
| | | | | |
|
IPF1 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4 | 606392 | | |
| | | | | |
|
HNF1B | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE V; MODY5 | 604284 | | |
| | | | | |
|
FLNA | MELNICK-NEEDLES SYNDROME; MNS | 309350 | | |
| | | | | |
|
COL10A1 | METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS | 156500 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
| Microduplication 22q11.2 | 608363 | - Single copy FISH (kommerzielle Sonden)
- Interphase FISH
- Vielfarben FISH mit regionenspezifischen Sonden
| |
| Spezifikation - Zytogenetisch
- Molekular Zytogenetisch
| | | | |
|
LIS 1 | MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS | 247200 | - Single copy FISH (kommerzielle Sonden)
| |
| Spezifikation - Pränatale Diagnostik
- Zytogenetisch
- Molekular Zytogenetisch
| | | | |
|
MTRNR1 | MITOCHONDRIAL DEAFNESS MODIFIER GENE 1; MDM1 | 221745 | | |
| | | | | |
|
| MUENKE SYNDROME | 602849 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
RET | MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2A | 171400 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
RET | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B | 162300 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
DMD | MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | 310200 | - MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
CBFB | MYELOID LEUKEMIA, ACUTE, M4Eo SUBTYPE | | - Single copy FISH (kommerzielle Sonden)
- Interphase FISH
- Vielfarben FISH mit regionenspezifischen Sonden
- PCR-Analyse
- quantitative PCR (realtime PCR)
| |
| Spezifikation - Zytogenetisch
- Molekulargenetisch
- Tumor Zytogenetisch
- Molekular Zytogenetisch
| | | | |
|
LMX1B | NAIL-PATELLA SYNDROME; NPS | 161200 | | |
| | | | | |
|
| NEUROFIBROMATOSIS, TYPE I; NF1 | 162200 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
IKBKAP | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | 223900 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
GNAT1 | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3 | 610444 | | |
| | | | | |
|
CACNA1F | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2; CSNB2 | 300071 | | |
| | | | | |
|
SLC45A2 | OCULOCUTANEOUS ALBINISM TYPE IV | 606574 | | |
| | | | | |
|
| OPTIC ATROPHY | 165300 | | |
| | | | | |
|
COL1A1 COL1A2 | Osteogenesis impefecta 2A | 166210 | | |
| | | | | |
|
COL1A1 COL1A2 | Osteogenesis imperfecta 3 | 259420 | | |
| | | | | |
|
COL1A1 COL1A2 | Osteogenesis imperfecta 4 | 166220 | | |
| | | | | |
|
PPIB | Osteogenesis imperfecta 9 | 259440 | | |
| | | | | |
|
CRTAP | Osteogenesis imperfecta Typ IIb | 610854 | | |
| | | | | |
|
LEPRE1 | Osteogenesis imperfecta Typ VIII | 610915 | | |
| | | | | |
|
COL1A1 COL1A2 | OSTEOGENESIS IMPERFECTA, TYPE I | 166200 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
FLNA | OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 | 311300 | | |
| | | | | |
|
FLNA | OTOPALATODIGITAL SYNDROME, TYPE II; OPD2 | 304120 | | |
| | | | | |
|
CFTR PRSS1 SPINK | PANCREATITIS, HEREDITARY; PCTT | 167800 | - Sanger-Sequenzierung
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| | | | | |
|
TNFRSF1A | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | 142680 | | |
| | | | | |
|
AMH AMHR2 | PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS | 261550 | | |
| | | | | |
|
PAI1 | PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1 | 173360 | | |
| | | | | |
|
PKD2 | POLYCYSTIC KIDNEY DISEASE | 173910, 173900, 263200, 6 | | |
| | | | | |
|
PKD1 | POLYCYSTIC KIDNEY DISEASE 1; PKD1 | 601313 | | |
| | | | | |
|
PKHD1 | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD | 263200 | | |
| | | | | |
|
JAK2 | Polycythämia vera | 263300 | | |
| | | | | |
|
SNRPN | PRADER-WILLI SYNDROME; PWS | 176270 | - Single copy FISH (kommerzielle Sonden)
- DNA-Methylierung
- Mikrosatellitenanalyse
| |
| Spezifikation - Anmeldung erforderlich
- Pränatale Diagnostik
- Zytogenetisch
- Molekulargenetisch
- Molekular Zytogenetisch
| | | | |
|
PI | PROTEASE INHIBITOR 1; PI | 107400 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
WNK1 WNK4 | Pseudohypoaldosteronism, type II | 145260 | | |
| | | | | |
|
| RETINOBLASTOMA; RB1 | 180200 | - Single copy FISH (kommerzielle Sonden)
- Interphase FISH
| |
| Spezifikation - Pränatale Diagnostik
- Zytogenetisch
- Molekular Zytogenetisch
| | | | |
|
ESCO2 | Roberts syndrome | 268300 | | |
| | | | | |
|
SHOX | SHORT STATURE HOMEOBOX; SHOX | 312865 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| | | | | |
|
HBB | SICKLE CELL ANEMIA | 603903 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
H19 | SILVER-RUSSELL SYNDROME | 180860 | - DNA-Methylierung
- Mikrosatellitenanalyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
FLI1 SHMT1 TOP3 | SMITH-MAGENIS SYNDROME; SMS | 182290 | - Single copy FISH (kommerzielle Sonden)
| |
| Spezifikation - Pränatale Diagnostik
- Zytogenetisch
- Molekular Zytogenetisch
| | | | |
|
DTDST / SLC26A2 | SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2 | 606718 | | |
| | | | | |
|
NFIX NSD1 | SOTOS SYNDROME | 117550 | | |
| | | | | |
|
SMN1 | SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 | 253300 | - MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
COL2A1 | SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC | 183900 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
ELOVL4 | STARGARDT DISEASE 1; STGD1 | 248200 | | |
| | | | | |
|
COL2A1 | STICKLER SYNDROME, TYPE I; STL1 | 108300 | | |
| | | | | |
|
HEXA | TAY-SACHS DISEASE; TSD | 272800 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
FGFR3 | THANATOPHORIC DYSPLASIA; TD | 187600 | - Sanger-Sequenzierung
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
THRB | THYROID HORMONE RESISTANCE | 188570 | | |
| | | | | |
|
DYT1 | TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1 | 128100 | | |
| | | | | |
|
TSC2 | TSC2 GENE; TSC2 | 191092 | | |
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TSC1 | TUBEROUS SCLEROSIS; TS | 191100 | | |
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CFTR | VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD | 277180 | - Sanger-Sequenzierung
- Mutationsanalyse (DHPLC, SSCP, DGGE)
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VHL | VON HIPPEL-LINDAU SYNDROME; VHL | 193300 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
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|
PAX3 | WAARDENBURG SYNDROME, TYPE I; WS1 | 193500 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
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|
MITF | WAARDENBURG SYNDROME, TYPE IIA; WS2A | 193510 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
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|
PAX3 | WAARDENBURG SYNDROME, TYPE III; WS3 | 148820 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
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|
Elastin | WILLIAMS-BEUREN SYNDROME; WBS | 194050 | - Single copy FISH (kommerzielle Sonden)
| |
| Spezifikation - Pränatale Diagnostik
- Zytogenetisch
- Molekular Zytogenetisch
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WT1 | WILMS TUMOR 1; WT1 | 194070 | | |
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WT1 | WILMS TUMOR AND PSEUDOHERMAPHRODITISM | 194080 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
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ATP7B | WILSON DISEASE | 277900 | | |
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WHSC1 | WOLF-HIRSCHHORN SYNDROME; WHS | 194190 | - Single copy FISH (kommerzielle Sonden)
| |
| Spezifikation - Pränatale Diagnostik
- Zytogenetisch
- Molekular Zytogenetisch
| | | | |
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PEX1 | Zellweger syndrome | 214100 | | |
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