Doenças neuromusculares

Distrofias musculares congénitas e miopatias congénitas

Lista de Genes
ACTA1 (HGNC:129)
B3GALNT2 (HGNC:28596), B4GAT1 (HGNC:15685), BIN1 (HGNC:1052)
CACNA1S (HGNC:1397), CCDC78 (HGNC:14153), CFL2 (HGNC:1875), CHKB (HGNC:1938), CNTN1 (HGNC:2171), COL12A1 (HGNC:2188), COL6A1 (HGNC:2211), COL6A2 (HGNC:2212), COL6A3 (HGNC:2213), CRPPA (HGNC:37276)
DAG1 (HGNC:2666), DMD (HGNC:2928), DNM2 (HGNC:2974)
FHL1 (HGNC:3702), FKRP (HGNC:17997), FKTN (HGNC:3622)
GMPPB (HGNC:22932)
INPP5K (HGNC:33882), ITGA7 (HGNC:6143)
KBTBD13 (HGNC:37227), KLHL40 (HGNC:30372), KLHL41 (HGNC:16905)
LAMA2 (HGNC:6482), LARGE1 (HGNC:6511), LMNA (HGNC:6636), LMOD3 (HGNC:6649)
MAP3K20 (HGNC:17797), MEGF10 (HGNC:29634), MTM1 (HGNC:7448), MYBPC3 (HGNC:7551), MYH7 (HGNC:7577), MYMK (HGNC:33778), MYO18B (HGNC:18150), MYOD1 (HGNC:7611), MYPN (HGNC:23246)
NEB (HGNC:7720)
ORAI1 (HGNC:25896)
POMGNT1 (HGNC:19139), POMGNT2 (HGNC:25902), POMK (HGNC:26267), POMT1 (HGNC:9202), POMT2 (HGNC:19743)
RXYLT1 (HGNC:13530), RYR1 (HGNC:10483)
SELENON (HGNC:15999), SPEG (HGNC:16901), STAC3 (HGNC:28423), STIM1 (HGNC:11386)
TCAP (HGNC:11610), TNNC2 (HGNC:11944), TNNT1 (HGNC:11948), TPM2 (HGNC:12011), TPM3 (HGNC:12012), TRAPPC11 (HGNC:25751), TRIM32 (HGNC:16380), TRIP4 (HGNC:12310), TTN (HGNC:12403)
90 dias
2mL de sangue em tubo com EDTA
Teste incluído no âmbito da Acreditação pelo IPAC, segundo os requisitos NP EN ISO 15189:2024. Análise do DNA mitocondrial incluída.