TRPM6 | HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG | 602014 | | |
| | | | | |
|
ATP8 | Mitochondriale Erkrankungen | 614053 | | |
| | | | | |
|
LIPE | Lipodystrophie Syndrom | 151750 | | |
| | | | | |
|
APRT | 2,8-@DIHYDROXYADENINE UROLITHIASIS | 102600 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
HADH | 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | 231530 | | |
| | | | | |
|
HADH | 3-hydroxyacyl-CoA dehydrogenase deficiency | 231530 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
MTP | Abetalipoproteinemia | 200100 | | |
| | | | | |
|
MTP | Abetalipoproteinemia (MTTP) | 200100 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CP | ACERULOPLASMINEMIA | 604290 | | |
| | | | | |
|
| ACID-LABILE SUBUNIT DEFICIENCY, IGFALS | 615961 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY | 202010 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- quantitative PCR (realtime PCR)
| |
| | | | | |
|
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY | 202110 | | |
| | | | | |
|
CYP11B1 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | 201910, 202110 | | |
| | | | | |
|
FGA | AFIBRINOGENEMIA, CONGENITAL | 202400 | | |
| | | | | |
|
BTK | AGAMMAGLOBULINEMIA X-LINKED; XLA | 300755 | | |
| | | | | |
|
GNAS | ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO | 103580 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
COL4A3
COL4A4 | ALPORT SYNDROME, AUTOSOMAL RECESSIVE | 203780 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
COL4A5 | ALPORT SYNDROME, X-LINKED; ATS | 301050 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
ALMS1 | Alstrom Syndrome | 203800 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
| ALZHEIMER DISEASE 2, LATE-ONSET; AD2 | 104310 | | |
| | | | | |
|
Gelsolin | Amyloidosis V | 105120 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CST3 | Amyloidosis, cerebroarterial, Icelandic type | 105150 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
APOA1
APOA2
FGA | AMYLOIDOSIS, FAMILIAL VISCERAL | 105200 | | |
| | | | | |
|
TTR | Amyloidosis, hereditary, transthyretin-related | 105210 | | |
| | | | | |
|
AN2 | ANIRIDIA, TYPE II; AN2 | 106210 | | |
| | | | | |
|
SLC12A1 | Antenatal Bartter syndrome type 1 | 601678 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
KCNJ1 | Antenatal Bartter syndrome type 2 | 241200 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
AT3 | ANTITHROMBIN III DEFICIENCY | 107300 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
FGFR1 | APERT SYNDROME | 101200 | | |
| | | | | |
|
APOA1 | APOLIPOPROTEIN A-I; APOA1 | 107680 | | |
| | | | | |
|
APOB | APOLIPOPROTEIN B; APOB | 107730 | | |
| | | | | |
|
APOC2 | APOLIPOPROTEIN C-II DEFICIENCY | 207750 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
APOE | APOLIPOPROTEIN E; APOE | 107741 | - Sanger-Sequenzierung
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| | | | | |
|
ASL | ARGININOSUCCINIC ACIDURIA | 207900 | | |
| | | | | |
|
ABCC6 | Arterial calcification, generalized, of infancy, 2; GACI2 | 614473 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
VPS33B | Arthrogryposis, renal dysfunction, and cholestasis 1 | 208085 | | |
| | | | | |
|
VIPAS39 | Arthrogryposis, renal dysfunction, and cholestasis 2 | 613404 | | |
| | | | | |
|
HNMT | ASTHMA, SUSCEPTIBILITY TO | 600807 | | |
| | | | | |
|
SCNN1A
SCNN1B
SCNN1G | autosomal recessive Pseudohypoaldosteronism | 264350 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- quantitative PCR (realtime PCR)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
SLC20A2 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3 | 614540 | | |
| | | | | |
|
BSCL2 | Berardinelli-Seip-congenital Lipodystrophy | 270685 | | |
| | | | | |
|
AGPAT2 | Berardinelli-Seip-congenital Lipodystrophy type 1 (BSCL1) | 608594 | | |
| | | | | |
|
GP1BA
GP1BB
GP9 | Bernard-Soulier- Syndrome | 231200 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
EYA1
SIX1
SIX5 | BRANCHIOOTORENAL DYSPLASIA | 113650 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| | | | | |
|
MAOA | Brunner syndrome | 300615 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
BTK | BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK | 300300 | | |
| | | | | |
|
| C1Q deficiency; C1QD | 613652 | | |
| | | | | |
|
C2 | C2 deficiency | 217000 | | |
| | | | | |
|
C3 | C3 deficiency; D3D | 613779 | | |
| | | | | |
|
C8A | C8 deficiency, type I | 613790 | | |
| | | | | |
|
C8B | C8 deficiency, type II | 613789 | | |
| | | | | |
|
C8G | C8G - Complement component 8, gamma polypeptide | 120930 | | |
| | | | | |
|
C9 | C9 deficiency with dermatomyositis | 613825 | | |
| | | | | |
|
ABHD5 | Chanarin-Dorfman syndrome | 275630 | | |
| | | | | |
|
CETP | CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP | 118470 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
APOA5
GPIHBP1 | Chylomicronemia | 118830 | | |
| | | | | |
|
| CINCA SYNDROME; CINCA | 607115 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
SLC25A13 | CITRULLINEMIA TYPE II | 603471 | | |
| | | | | |
|
ASS | Citrullinemia, classic | 215700 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
CLCNKB | Classic Bartter syndrome | 607364 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
COQ2 | Coenzyme Q10 deficiency, primary, 1 | 607426 | | |
| | | | | |
|
PDSS1 | Coenzyme Q10 deficiency, primary, 2; COQ10D2 | 614651 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
PDSS2 | Coenzyme Q10 deficiency, primary, 3; COQ10D3 | 614652 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
ADCK3 | Coenzyme Q10 deficiency, primary, 4; COQ10D4 | 612016 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
COQ9 | Coenzyme Q10 deficiency, primary, 5; COQ10D5 | 614654 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
COQ6 | Coenzyme Q10 deficiency, primary, 6 | 614650 | | |
| | | | | |
|
MLH1 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2 | 609310 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
C3 | Complement Component 3; C3 | 120700 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CFD | Complement factor D deficiency | 613912 | | |
| | | | | |
|
COX1
COX3
MT-CO2 | COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF | 220110 | | |
| | | | | |
|
DSTYK | Congenital abnormalities of the kidney and urinary tract | 610805 | | |
| | | | | |
|
EMP2 | Congenital nephrotic syndrome type 10; NPHS10 | 615861 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CYP11B2 | CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY | 203400 | | |
| | | | | |
|
| CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY | 218030 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
UGT1A1 | CRIGLER-NAJJAR SYNDROME | 218800 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
UGT1A1 | CRIGLER-NAJJAR SYNDROME, TYPE II | 606785 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
UMOD | cystic kidney disease, autosomal dominant medullary, type 2 | 603860 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
CTNS | Cystinosis, nephropathic | 219800 | | |
| | | | | |
|
SLC3A1
SLC7A9 | CYSTINURIA; CSNU | 220100 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
MYH9 | Deafness, autosomal dominant nonsyndromic sensorineural 17; DFNA 17 | 603622 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
MTRNR1 | Deafness, nonsyndromic sensorineural, mitochondrial | 500008 | | |
| | | | | |
|
CLCN5 | DENT DISEASE | 300009 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
OCRL | Dent-disease 2 | 300555 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
AQP2 | DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT | 125800 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
AQP2 | DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE | 222000 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
AVPR2 | DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED | 304800 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
AVP | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE | 125700 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
INSR | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS | 610549 | | |
| | | | | |
|
HNF1B
PPARG | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | 125853 | - MLPA (Multiple Ligation-dependent Probe Amplification
| |
| | | | | |
|
GCK
KCNJ11 | DIABETES MELLITUS, PERMANENT NEONATAL | 606176 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
ZFP57 | DIABETES MELLITUS, TRANSIENT NEONATAL | 601410 | | |
| | | | | |
|
| Diabetes mellitus, transient neonatal, 3 | 610582 | | |
| | | | | |
|
PON1 | Diabetic retinopathy | 612633 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
SLC4A1 | Diego Blood Group Antigen | 110500 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
LRP2 | Donnai-Barrow syndrome | 222448 | | |
| | | | | |
|
KCNA1 | Episodic Ataxia | 108500, 160120 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
KCNA1 | EPISODIC ATAXIA, TYPE 1; EA1 | 160120 | | |
| | | | | |
|
MYH9 | EPSTEIN SYNDROME | 153650 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
MYH9 | Epstein/Fechner syndrome | 153650 | | |
| | | | | |
|
| FABRY DISEASE | 301500 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
| FACTOR XIII, A1 SUBUNIT; F13A1 | 613225 | | |
| | | | | |
|
F13B | Factor XIIIB deficiency | 613235 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CIAS1 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FCAS | 120100 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
PCSK9 | Familial Hypercholesterolemia 3, Autosomal Dominant | 603776 | | |
| | | | | |
|
GNA11 | Familial hypocalciuric hypercalcemia type 2 | 145981 | | |
| | | | | |
|
MEFV
SAA1 | FAMILIAL MEDITERRANEAN FEVER; FMF | 249100 | | |
| | | | | |
|
APOA2 | Familial renal amyloidosis due to Apolipoprotein AII variant | 107670 | | |
| | | | | |
|
UGT1A1 | Familial transient neonatal hyperbilirubinemia | 237900 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
EHHADH | Fanconi renotubular syndrome 3; FRTS3 | 615605 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
SLC2A2 | FANCONI-BICKEL SYNDROME | 227810 | | |
| | | | | |
|
MYH9 | Fechtner syndrome | 153640 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
ACVR1 | Fibrodysplasia ossificans progressiva (FOP) | 135100 | | |
| | | | | |
|
FN1 | Fibronectin glomerulopathy | 601894 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
LCAT | FISH-EYE DISEASE; FED | 136120 | | |
| | | | | |
|
ACTN4
INF2
TRPC6 | Focal Segmental Glomerulosclerosis | 603278, 603965 | | |
| | | | | |
|
ACTN4
INF2
TRPC6 | Focal Segmental Glomerulosclerosis | 603278, 603965, 613237 | | |
| | | | | |
|
ACTN4 | Focal segmental glomerulosclerosis 1; FSGS1 | 603278 | | |
| | | | | |
|
ACTN4 | Focal segmental glomerulosclerosis 1; FSGS1 | 603278 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
TRPC6 | Focal segmental glomerulosclerosis 2 | 603965 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
CD2AP | Focal segmental glomerulosclerosis 3; FSGS3 | 607832 | | |
| | | | | |
|
CD2AP | Focal segmental glomerulosclerosis 3; FSGS3 | 607832 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
APOL1 | Focal segmental glomerulosclerosis-4 | 612551 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
WT1 | FRASIER SYNDROME | 136680 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
ALDOB | FRUCTOSE INTOLERANCE, HEREDITARY | 229600 | | |
| | | | | |
|
KHK | Fructose-Intolerance (hereditary) | 229600 | | |
| | | | | |
|
KHK | FRUCTOSURIA, ESSENTIAL | 229800 | | |
| | | | | |
|
ENPP1 | Generalized arterial calcification of infancy | 208000 | | |
| | | | | |
|
UGT1A1 | GILBERT SYNDROME | 143500 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
SLC12A3 | GITELMAN SYNDROME | 263800 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- quantitative PCR (realtime PCR)
| |
| | | | | |
|
GP3A
ITGA2B | Glanzmann thrombasthenia | 273800 | | |
| | | | | |
|
CYP1B1 | GLAUCOMA 3, PRIMARY INFANTILE, A; GLC3A | 231300 | | |
| | | | | |
|
MYOC | GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1 | 137750 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
INF2 | Glomerulosclerosis, focal segmental, 5 | 613237 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
NR3C1 | Glucocorticoid resistance | 615962 | | |
| | | | | |
|
SLC5A1 | GLUCOSE/GALACTOSE MALABSORPTION | 606824 | | |
| | | | | |
|
COL4A3
COL4A3BP
COL4A5 | Goodpasture syndrome | 233450 | | |
| | | | | |
|
GH1
GHRHR | GROWTH HORMONE DEFICIENCY | 139250 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- quantitative PCR (realtime PCR)
| |
| | | | | |
|
GHSR | Growth hormone deficiency, isolated partial; GHDP | 615925 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
STAT5B | Growth hormone insensitivity with immunodeficiency | 245590 | | |
| | | | | |
|
HAMP
Hemojuvelin | HEMOCHROMATOSIS TYPE 2 | 602390 | | |
| | | | | |
|
HAMP
Hemojuvelin | HEMOCHROMATOSIS, JUVENILE; JH | 602390, 615517 | | |
| | | | | |
|
TFR2 | HEMOCHROMATOSIS, TYPE 3; HFE3 | 604250 | | |
| | | | | |
|
SLC11A3 | HEMOCHROMATOSIS, TYPE 4; HFE4 | 606069 | | |
| | | | | |
|
FTH1 | Hemochromatosis, type 5 | 615517 | | |
| | | | | |
|
BMP2
Hepcidin
HFE | HEMOCHROMATOSIS; HFE | 235200 | | |
| | | | | |
|
MYO1E | Hereditary FSGS type 6 | 614131 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
MTHFR | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE
REDUCTASE ACTIVITY | 236250 | - Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| | | | | |
|
HSD17B10 | HYDROXYACYL-CoA DEHYDROGENASE, TYPE II; HADH2 | 300256 | | |
| | | | | |
|
MVK | HYPER-IgD SYNDROME; HIDS | 260920 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CD40 | HYPER-IgM Syndrome 3 | 606843 | | |
| | | | | |
|
UNG | HYPER-IgM Syndrome 5 | 608106 | | |
| | | | | |
|
AICDA | Hyper-IgM-Syndrome 2 | 605258 | | |
| | | | | |
|
CYP11B2 | HYPERALDOSTERONISM, FAMILIAL, TYPE I | 103900 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- quantitative PCR (realtime PCR)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
KCNJ5 | Hyperaldosteronism, familial, type II | 613677 | | |
| | | | | |
|
APOC3
CETP | Hyperalphalipoproteinemia | 143470 | | |
| | | | | |
|
APOC3 | Hyperalphalipoproteinemia 2 | 614028 | | |
| | | | | |
|
| Hypercalcemia, infantile | 143880 | | |
| | | | | |
|
LDLR | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT | 143890, 603776 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
APOB | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B | 144010 | - Sanger-Sequenzierung
- PCR-Analyse
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
ARH | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | 603813 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
KCNJ11 | Hyperinsulinemic hypoglycemia, familial, 2 | 601820 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
HADH | Hyperinsulinemic hypoglycemia, familial, 4 | 609975 | | |
| | | | | |
|
SLC16A1 | Hyperinsulinemic hypoglycemia, familial, 7 | 610021 | | |
| | | | | |
|
GCK
GLUD1 | Hyperinsulinemic hypoglycemia, familial, type 3 | 602485 | | |
| | | | | |
|
KCNJ11 | Hyperinsulinemic hypoglycemia, familial,1; HHF1 | 256450 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
| HYPERLIPOPROTEINEMIA, TYPE I | 238600 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | 238970 | | |
| | | | | |
|
GRHPR | Hyperoxaluria type II | 260000 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
AGXT | Hyperoxaluria, primary, type I | 259900 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
DHDPSL (HOGA1) | Hyperoxaluria, primary, type III | 613616 | | |
| | | | | |
|
HRPT2 | HYPERPARATHYROIDISM 2 | 145001 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CDC73 | Hyperparathyroidism, familial primary; HRPT1 | 145000 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CASR | HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT | 239200 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
FGF23
GALANT3
KL | Hyperphosphatemic familial tumoral calcinosis | 211900 | | |
| | | | | |
|
| HYPERTENSION, ESSENTIAL | 145500 | | |
| | | | | |
|
ABCA1
APOA1 | HYPOALPHALIPOPROTEINEMIA, PRIMARY | 604091 | | |
| | | | | |
|
| Hypobetalipoproteinemia | 615558 | | |
| | | | | |
|
| Hypobetalipoproteinemia, familial, 2 | 605019 | | |
| | | | | |
|
CASR
GNA11 | HYPOCALCEMIA, AUTOSOMAL DOMINANT | 601198 | | |
| | | | | |
|
CASR | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 (sowie Typ III; HHC3) | 145980, 600740 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
AP2S1 | Hypocalciuric hypercalcemia, familial, type III | 600740 | | |
| | | | | |
|
AKT2 | Hypoinsulinemic hypoglycemia; HIHGHH | 240900 | | |
| | | | | |
|
LCT
MCM6 | HYPOLACTASIA, ADULT TYPE | 223100 | | |
| | | | | |
|
FXYD2 | Hypomagnesemia 2 | 154020 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
CNNM2 | Hypomagnesemia 6, renal | 613882 | | |
| | | | | |
|
CLDN19 | Hypomagnesemia with ocular involvement | 248190 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
CLDN16 | HYPOMAGNESEMIA, PRIMARY | 248250 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- quantitative PCR (realtime PCR)
| |
| | | | | |
|
TBCE | Hypoparathyroidism-retardation-dysmorphism syndrome; HRD | 241410 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CASR
GCM2
PTH | Hypoparathyroidism, familial isolated; fih | 146200 | | |
| | | | | |
|
GATA3 | Hypoparathyroidism, Sensorineural Deafness, and Renal Disease | 146255 | | |
| | | | | |
|
ALPL | Hypophosphatasia (infantile, childhood, adult) | 241500, 241510, 146300 | | |
| | | | | |
|
ALPL | HYPOPHOSPHATASIA, ADULT TYPE | 146300 | | |
| | | | | |
|
ALPL | Hypophosphatasia, childhood, infantile | 241510 | | |
| | | | | |
|
ALPL | HYPOPHOSPHATASIA, INFANTILE | 241500 | | |
| | | | | |
|
| HYPOPHOSPHATEMIA, X-LINKED | 307800 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- quantitative PCR (realtime PCR)
| |
| | | | | |
|
SLC34A3 | Hypophosphatemic rickets with hypercalciuria | 241530 | | |
| | | | | |
|
DMP1 | Hypophosphatemic rickets, AR | 241520 | | |
| | | | | |
|
FGF23 | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR | 193100 | | |
| | | | | |
|
ENPP1 | Hypophosphatemic rickets, autosomal recessive, 2 | 613312 | | |
| | | | | |
|
B2M | Hypoproteinemia, hypercatabolic | 241600 | | |
| | | | | |
|
SLC22A12 | HYPOURICEMIA, RENAL | 220150 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- quantitative PCR (realtime PCR)
| |
| | | | | |
|
SLC2A9 | Hypouricemia, renal, 2 | 612076 | | |
| | | | | |
|
HPRT1 | HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1 | 308000 | | |
| | | | | |
|
IGF1R | IGF1 resistance | 270450 | | |
| | | | | |
|
TNFSF5 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1 | 308230 | | |
| | | | | |
|
SMARCAL1 | IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE | 242900 | | |
| | | | | |
|
GNE | INCLUSION BODY MYOPATHY | 605637, 600737, 614807, 6 | | |
| | | | | |
|
SLC17A5 | Infantile Sialinsäure-Speicherkrankheit | 269920 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
| INSULIN-DEPENDENT DIABETES MELLITUS 2; IDDM2 | 125852 | | |
| | | | | |
|
IGF1 | insulin-like growth factor I deficiency | 608747 | | |
| | | | | |
|
GP3A | INTEGRIN, BETA-3; ITGB3 | 173470 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CEP290 | Joubert Syndrome 5, JBTS5 | 610188 | | |
| | | | | |
|
MEM67/MKS3 | Joubert syndrome 6; JBTS6 | 610688 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
RPGRIP1L | Joubert syndrome 7; JBTS7 | 611560 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
TBCE | Kenny-Caffey syndrome-1; KCS1 | 244460 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
LCT | LACTASE DEFICIENCY, CONGENITAL | 223000 | | |
| | | | | |
|
SHOX | LANGER MESOMELIC DYSPLASIA | 249700 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
GHR | LARON SYNDROME | 262500 | | |
| | | | | |
|
CEP290 | Leber Congenital Amaurosis, Type X; LCA10 | 611755 | | |
| | | | | |
|
ATP6
COX1
COX3 | Leber hereditary optic neuropathy | 535000 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
LCAT | LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY | 245900 | | |
| | | | | |
|
COL4A5
COL4A6 | Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome | 308940 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| | | | | |
|
SHOX | LERI-WEILL DYSCHONDROSTEOSIS; LWD | 127300 | | |
| | | | | |
|
LIPC | LIPASE, HEPATIC; LIPC | 151670 | | |
| | | | | |
|
CIDEC | Lipodystrophy (partial familial) Typ 5 | 615238 | | |
| | | | | |
|
BSCL2 | Lipodystrophy, congenital generalized, type 2; CGL2 | 269700 | | |
| | | | | |
|
LMNA | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2 | 151660 | | |
| | | | | |
|
PPARG | Lipodystrophy, familial partial, type 3 | 604367 | | |
| | | | | |
|
PLIN1 | Lipodystrophy, familial partial, type 4 | 613877 | | |
| | | | | |
|
KCNJ5 | Long QT syndrome 13; LQT13 | 613485 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
| LOWE OCULOCEREBRORENAL SYNDROME; OCRL | 309000 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
LPA | Lp(a) hyperlipoproteinemia | 152200 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
EGFR | Lung Cancer | 211980 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
VEGFC | LYMPHEDEMA, HEREDITARY, I | 153100 | | |
| | | | | |
|
SLC7A7 | LYSINURIC PROTEIN INTOLERANCE | 222700 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
INS | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10 | 613370 | | |
| | | | | |
|
APPL1 | Maturity-onset diabetes of the young, type 14 | 616511 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
HNF4A | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1 | 125850 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| | | | | |
|
GCK | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2 | 125851 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
HNF1A | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3 | 600496 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
IPF1 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4 | 606392 | | |
| | | | | |
|
HNF1B | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE V; MODY5 | 604284 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
NEUROD1 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VI; MODY6 | 606394 | | |
| | | | | |
|
MYH9 | May-Hegglin Anomaly | 155100 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
BBS6 | McKusick-Kaufman syndrome | 236700 | | |
| | | | | |
|
MEM67/MKS3 | MECKEL SYNDROME, TYPE 3; MKS3 | 607361 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CEP290 | Meckel Syndrome, Type 4; MKS4 | 611134 | | |
| | | | | |
|
CEP290
MKS1 | Meckel-Gruber Syndrome | 249000 | | |
| | | | | |
|
MUC1 | Medullary cystic kidney disease 1; MCKD1 | 174000 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
PLA2R1 | Membranous nephropathy, susceptibility to; MBNP | 614692 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
MAT1A | METHIONINE ADENOSYLTRANSFERASE DEFICIENCY | 250850 | | |
| | | | | |
|
MTRNR1 | MITOCHONDRIAL DEAFNESS MODIFIER GENE 1; MDM1 | 221745 | | |
| | | | | |
|
ATP6 | Mitochondrially encoded ATP synthase 6 | 516060 | | |
| | | | | |
|
BLK | MODY 11 | 613375 | | |
| | | | | |
|
KLF11 | MODY 7 | 610508 | | |
| | | | | |
|
CEL | MODY 8 | 609812 | | |
| | | | | |
|
PAX4 | MODY9 | 612225 | | |
| | | | | |
|
SLC16A1 | Monocarboxylate transporter 1 deficiency; MCT1D | 616095 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CIAS1 | MUCKLE-WELLS SYNDROME | 191900 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
MLH1
MSH2 | Muir-Torre syndrome; MRTES | 158320 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
MYOC | MYOCILIN; MYOC | 601652 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
SCARB2 | Myoclonus-nephropathy syndrome; EPM4 | 254900 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
LMX1B | NAIL-PATELLA SYNDROME; NPS | 161200 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
SLC34A1
SLC9A3R1 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1 | 612286 | | |
| | | | | |
|
NPHP1 | NEPHRONOPHTHISIS 1; NPHP1 | 256100 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
MEM67/MKS3 | Nephronophthisis 11; NPHP11 | 613550 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
TTC21B | Nephronophthisis 12; NPHP12 | 613820 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CEP164 | Nephronophthisis 15; NPHP15 | 614845 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
ANKS6 | Nephronophthisis 16; NPHP16 | 615382 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CEP83 | Nephronophthisis 18; NPHP18 | 615862 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
DCDC2 | Nephronophthisis 19; NPHP19 | 616217 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
INVS | NEPHRONOPHTHISIS 2; NPHP2 | 602088 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
NPHP3 | NEPHRONOPHTHISIS 3; NPHP3 | 604387 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
NPHP4 | NEPHRONOPHTHISIS 4; NPHP4 | 606966 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
GLIS2 | Nephronophthisis 7; NPHP7 | 611498 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
NEK8 | Nephronophthisis 9; NPHP9 | 613824 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CD151 | Nephropathy with pretibial epidermolysis bullosa and deafness | 609057 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
NPHS1 | NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1 | 256300 | | |
| | | | | |
|
ARHGDIA | Nephrotic syndrome type 8 | 615244 | | |
| | | | | |
|
WT1 | NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS | 256370 | | |
| | | | | |
|
NPHS2 | Nephrotic syndrome, steroid-resistant, autosomal recessive; SRN1 | 600995 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
PLCE1 | NEPHROTIC SYNDROME, TYPE 3; NPHS3 | 610725 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
LAMB2 | Nephrotic syndrome, type 5, with or without ocular abnormalities | 614199 | | |
| | | | | |
|
PTPRO | Nephrotic syndrome, type 6 | 614196 | | |
| | | | | |
|
DGKE | Nephrotic syndrome, type 7 | 615008 | | |
| | | | | |
|
ADCK4 | Nephrotic syndrome, type 9 | 615573 | | |
| | | | | |
|
OTC | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO | 311250 | | |
| | | | | |
|
FGFR1 | OSTEOGLOPHONIC DYSPLASIA | 166250 | | |
| | | | | |
|
FAM123B | Osteopathia striata with cranial sclerosis | 300373 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
| OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS | 259730 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
EYA1 | Otofaciocervical syndrome | 166780 | | |
| | | | | |
|
PRSS1
SPINK | PANCREATITIS, HEREDITARY; PCTT | 167800 | | |
| | | | | |
|
PAX2 | PAPILLORENAL SYNDROME | 120330 | | |
| | | | | |
|
PIGA | Paroxysmal nocturnal hemoglobinuria, somatic | 300818 | | |
| | | | | |
|
TNFRSF1A | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | 142680 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
LAMB2 | Pierson Syndrome | 609049 | | |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
NPHS2 | PODOCIN; NPHS2 | 604766 | | |
| | | | | |
|
PKD2 | POLYCYSTIC KIDNEY DISEASE | 173910, 173900, 263200, 6 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
PKD2 | POLYCYSTIC KIDNEY DISEASE | 613095 | | |
| | | | | |
|
PKD1 | POLYCYSTIC KIDNEY DISEASE 1; PKD1 | 601313 | | |
| | | | | |
|
PKHD1 | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD | 263200 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
COL4A1 | Porencephaly, familal | 175780 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CFP | Properdin deficiency, X-linked | 312060 | | |
| | | | | |
|
| PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO | 176860 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
PROS1 | PROTEIN S, ALPHA; PROS1 | 176880 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
| |
| | | | | |
|
NR3C2 | Pseudohypoaldosteronism (autosomal dominant) | 177735 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- quantitative PCR (realtime PCR)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
CUL3 | Pseudohypoaldosteronism, type IIE | 614496 | | |
| | | | | |
|
GNAS
STX16 | Pseudohypoparathyroidism, Type IB | 603233 | - Sanger-Sequenzierung
- PCR-Analyse
- DNA-Methylierung
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
CYP27B1 | PSEUDOVITAMIN D DEFICIENCY RICKETS | 264700 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
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|
FAM20C | Raine syndrome | 259775 | | |
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|
SLC5A2 | RENAL GLUCOSURIA; GLYS1 | 233100 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
FGF20 | Renal hypodysplasia/aplasia 2; RHDA2 | 615721 | - Sanger-Sequenzierung
- PCR-Analyse
| |
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|
SLC4A1 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT | 179800 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
ATP6V0A4 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR | 602722 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
ATP6V1B1 | RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS | 267300 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
SLC4A4 | RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES | 604278 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
CYP2R1 | Rickets due to defect in vitamin D 25-hydroxylation | 600081 | | |
| | | | | |
|
FGFR1 | SAETHRE-CHOTZEN SYNDROME; SCS | 101400 | | |
| | | | | |
|
SLC17A5 | Salla disease | 604369 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
MYH9 | Sebastian syndrome; SBS | 605249 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
KCNJ10 | Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome | 612780 | | |
| | | | | |
|
NPHP1 | Senior Locken Syndrome 1; SLSN1 | 266900 | | |
| | | | | |
|
IQCB1 | Senior-Locken Syndrome 5;SLSN5 | 609254 | | |
| | | | | |
|
NPHP4 | Senior-Loken syndrome 4; | 606996 | | |
| | | | | |
|
CEP290 | Senior-Loken syndrome 6 ; SLSN6 | 610189 | | |
| | | | | |
|
IFT172 | Short-rib thoracic dysplasia 10 with or without polydactyly; SRTD10 | 615630 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
GNE | SIALURIA, FRENCH TYPE | 269921 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
| Sitosterolemia | 210250 | | |
| | | | | |
|
| Tangier disease | 205400 | | |
| | | | | |
|
AT3 | Thrombophilia due to antithrombin III deficiency; AT3D | 613118 | | |
| | | | | |
|
| THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE | 612304 | | |
| | | | | |
|
ADAMTS13 | THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP | 274150 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
THRB | THYROID HORMONE RESISTANCE | 188570 | | |
| | | | | |
|
TTR | TRANSTHYRETIN; TTR | 176300 | | |
| | | | | |
|
TREH | Trehalase deficiency | 612119 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
VDR | VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO
1,25-DIHYDROXYCHOLECALCIFEROL | 277440 | - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- quantitative PCR (realtime PCR)
| |
| Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| | | | |
|
VKORC1 | Vitamin K dependent clotting factors, combined deficiency | 607473 | | |
| | | | | |
|
GGCX | Vitamin K-Dependent coagulation defect | 277450 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
VHL | VON HIPPEL-LINDAU SYNDROME; VHL | 193300 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
AN2
WT1 | WAGR SYNDROME | 194072 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
Elastin | WILLIAMS-BEUREN SYNDROME; WBS | 194050 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
| | | | | |
|
WT1 | WILMS TUMOR 1; WT1 | 194070 | - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
| |
| | | | | |
|
WT1 | WILMS TUMOR AND PSEUDOHERMAPHRODITISM | 194080 | - Sanger-Sequenzierung
- PCR-Analyse
| |
| | | | | |
|
CISD2
WFS1 | WOLFRAM SYNDROME | 222300 | - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
| |
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