Multigen-Diagnostik
Arthrogrypose
Panel-Nummer: ID200.01
Gene (61)
| Genotyp | OMIM Genotyp | Erbgang | OMIM Phänotyp | Phänotyp |
| LGI4 | 608303 | AR | 617468 | Arthrogryposis multiplex congenita (AMC1) |
| ERGIC1 | 617946 | AR | 208100 | Arthrogryposis multiplex congenita (AMC2) |
| SYNE1 | 608441 | AR | 618484 | Arthrogryposis multiplex congenita (AMC3) |
| SCYL2 | 616365 | AR | 618766 | Arthrogryposis multiplex congenita (AMC4) |
| TOR1A | 605204 | AR | 618947 | Arthrogryposis multiplex congenita (AMC5) |
| NEB | 161650 | AR | 619334 | Arthrogryposis multiplex congenita (AMC6) |
| TPM2 | 190990 | AD | 108120 | Distale Arthrogrypose (DA1A) |
| MYBPC1 | 160794 | AD | 614335 | Distale Arthrogrypose (DA1B) |
| MYLPF | 617378 | AD, AR | 617378 | Distale Arthrogrypose (DA1C) |
| MYH3 | 160720 | AD | 193700 | Distale Arthrogrypose (DA2A) |
| TNNI2 | 191043 | AD | 601680 | Distale Arthrogrypose (DA2B1) |
| TNNT3 | 600692 | AD | 193700 | Distale Arthrogrypose (DA2B2) |
| MYH3 | 160720 | AD | 618436 | Distale Arthrogrypose (DA2B3) |
| TPM2 | 190990 | AD | 108120 | Distale Arthrogrypose (DA2B4) |
| PIEZO2 | 613629 | AD | 114300 | Distale Arthrogrypose (DA3) |
| PIEZO2 | 613629 | AD | 108145 | Distale Arthrogrypose (DA5) |
| ECEL1 | 605896 | AR | 615065 | Distale Arthrogrypose (DA5D) |
| MYH8 | 160741 | AD | 158300 | Distale Arthrogrypose (DA7) |
| MYH3 | 178110 | AD | 178110 | Distale Arthrogrypose (DA8) |
| FBN2 | 612570 | AD | 121050 | Distale Arthrogrypose (DA9) |
| UBA1 | 314370 | XLR | 301830 | Distale Arthrogrypose (SMAX2) |
| MUSK | 601296 | AR | 208150 | Fetale Akinesie-Sequenz (FADS1) |
| RAPSN | 601592 | AR | 618388 | Fetale Akinesie-Sequenz (FADS2) |
| DOK7 | 610285 | AR | 618389 | Fetale Akinesie-Sequenz (FADS3) |
| NUP88 | 602552 | AR | 618393 | Fetale Akinesie-Sequenz (FADS4) |
| GLE1 | 603371 | AR | 253310 | Letales kongenitales Kontraktursyndrom (LCCS1) |
| ERBB3 | 190151 | AR | 607598 | Letales kongenitales Kontraktursyndrom (LCCS2) |
| PIP5K1C | 606102 | AR | 611369 | Letales kongenitales Kontraktursyndrom (LCCS3) |
| MYBPC1 | 160794 | AR | 614915 | Letales kongenitales Kontraktursyndrom (LCCS4) |
| DNM2 | 602378 | AR | 615368 | Letales kongenitales Kontraktursyndrom (LCCS5) |
| ZBTB42 | 613915 | AR | 616248 | Letales kongenitales Kontraktursyndrom (LCCS6) |
| CNTNAP1 | 602346 | AR | 616286 | Letales kongenitales Kontraktursyndrom (LCCS7) |
| ADCY6 | 600294 | AR | 616287 | Letales kongenitales Kontraktursyndrom (LCCS8) |
| ADGRG6 | 612243 | AR | 616503 | Letales kongenitales Kontraktursyndrom (LCCS9) |
| NEK9 | 609798 | AR | 617022 | Letales kongenitales Kontraktursyndrom (LCCS10) |
| GLDN | 608603 | AR | 617194 | Letales kongenitales Kontraktursyndrom (LCCS11) |
| CNTN1 | 600016 | AR | 512540 | Letales kongenitales Kontraktursyndrom (MYPCN) |
| NALCN | 611549 | AD | 616291 | Kongenitales Kontraktursyndrom (CLIFAHDD) |
| GLE1 | 603371 | AR | 611890 | Kongenitales Arthrogrypose-Syndrom (CAAHD) |
| ERCC6 | 609413 | AR | 214150 | COFS-Syndrom (COFS1) |
| ERCC2 | 126340 | AR | 610756 | COFS-Syndrom (COFS2) |
| ERCC5 | 133530 | AR | 616570 | COFS-Syndrom (COFS3) |
| ERCC1 | 126380 | AR | 610758 | COFS-Syndrom (COFS4) |
| VPS33B | 608552 | AR | 208085 | ARC-Syndrom (ARCS1) |
| VIPAS39 | 613401 | AR | 613404 | ARC-Syndrom (ARCS2) |
| FKBP10 | 607063 | AR | 259450 | Bruck-Syndrom (BRKS1) |
| PLOD2 | 601865 | AR | 609220 | Bruck-Syndrom (BRKS2) |
| TPM3 | 191030 | AD, AR | 609284 | Nemalin-Myopathie (NEM1) |
| ACTA1 | 192610 | AD, AR | 161800 | Nemalin-Myopathie (NEM3) |
| KLHL41 | 607701 | AR | 615731 | Nemalin-Myopathie (NEM8) |
| KLHL40 | 615340 | AR | 615348 | Nemalin-Myopathie (NEM9) |
| LMOD3 | 616112 | AR | 616165 | Nemalin-Myopathie (NEM10) |
| BICD2 | 609797 | AD | 618291 | Spinale Muskelatrophie (SMALED2B) |
| TRIP4 | 604501 | AR | 616866 | Spinale Muskelatrophie mit Knochenfrakturen (SMABF1) |
| ASCC1 | 614215 | AR | 616867 | Spinale Muskelatrophie mit Knochenfrakturen (SMABF2) |
| TRPV4 | 605427 | AD | 600175 | Spinale Muskelatrophie mit Kontrakturen (HMN8) |
| RYR1 | 180901 | AR | 255320 | Multi-Minicore-Myopathie |
| DHCR24 | 606418 | AR | 602398 | Desmosterolose |
| FLVCR2 | 225790 | AR | 225790 | Fowler-Syndrom (PVHH) |
| GBE1 | 607839 | AR | 232500 | Andersen-Krankheit (GSD4) |
| ZC4H2 | 300897 | XLR | 314580 | Wieacker-Wolff-Syndrom (WRWF) |
| MAGEL2 | 614547 | AD | 615547 | Schaaf-Young-Syndrom (SHFYNG) |
| CHST14 | 608429 | AR | 601776 | Ehlers-Danlos-Syndrom, muskulokontraktureller Typ (EDSMC1) |
| DSE | 605942 | AR | 615539 | Ehlers-Danlos-Syndrom, muskulokontraktureller Typ (EDSMC2) |
| CHRNA1 | 100690 | AR | 253290 | Letales multiples Pterygium-Syndrom (LMPS) |
| CHRNG | 100730 | AR | 253290 | Letales multiples Pterygium-Syndrom (LMPS) |
| CHRND | 100720 | AR | 253290 | Letales multiples Pterygium-Syndrom (LMPS) |
Akkreditiertes Verfahren: ja
Download:Formulare zur Probeneinsendung
Methodik
Mittels Next-Generation-Sequencing (NGS) werden die o. g. Gene parallel analysiert (DNA-Sequenz, ggf. Kopienzahlvariation (CNV)).
Als Bestätigungsanalyse kann ggf. eine Sanger-Sequenzanalyse bzw. eine MLPA-Analyse (Multiplex-Ligation-dependent-Product-Amplification) durchgeführt werden.
Diagnostik
Gen-Panel ID200.01
Arthrogrypose: 61 Gene (209,7 kb)
ACTA1, ADCY6, ADGRG6, ASCC1, BICD2, CHRNA1*, CHRND*, CHRNG*, CHST14, CNTN1, CNTNAP1, DHCR24*, DNM2*, DOK7, DSE, ECEL1, ERBB3, ERCC1, ERCC2, ERCC5, ERCC6, ERGIC1, FBN2*, FKBP10, FLVCR2, GBE1, GLDN, GLE1, KLHL40, KLHL41, LGI4, LMOD3, NALCN, MAGEL2, MUSK, MYBPC1, MYH3, MYH8, MYLPF, NEB, NEK9, NUP88, PIEZO2*, PIP5K1C, PLOD2*, RAPSN*, RYR1*, SCYL2, SYNE1, TNNI2*, TNNT3, TOR1A, TPM2, TPM3, TRIP4, TRPV4*, UBA1, VIPAS39, VPS33B, ZBTB42, ZC4H2
Arthrogryposis multiplex congenita (AMC): 6 Gene (58,2 kb)
ERGIC1, TOR1A, LGI4, NEB, SCYL2, SYNE1
Distale Arthrogrypose (DA): 11 Gene (40,3 kb)
ECEL1, FBN2*, MYBPC1, MYH3, MYH8, MYLPF, PIEZO2*, TNNI2*, TNNT3, TPM2, UBA1
Letales kongenitales Kontraktursyndrom (LCCS): 11 Gene (31,5 kb)
ADCY6, ADGRG6, CNTNAP1, DNM2*, ERBB3, GLDN, GLE1, MYBPC1, NEK9, PIP5K1C, ZBTB42
Fetale Akinesie-Deformation-Sequenz (FADS): 4 Gene (7,6 kb)
DOK7, MUSK, NUP88, RAPSN*
* auch als Einzelgen-Diagnostik mittels Sanger-Seque,nzierung verfügbar
** auch als Einzelgen-Diagnostik mittels MLPA-Analyse verfügbar
Material
3 - 5 ml EDTA-Blut
Dauer
4 - 6 Wochen
Stand: 21.06.2021