Neuromuscular diseases

*= For these genes, an MLPA analysis may be carried out as an additional step in the diagnostics.

Distal arthrogryposis

Small panel (#087)

FBN2, MYH3, PIEZO2, TNNI2, TNNT3, TPM2
(6 genes, 25 kb)


Large panel (#168)

ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, MYPN, NEB, TNNT1, TPM3, ADCY6, ADGRG6, AIMP1, ASCC1, CHAT, CHRNA1, CHRNE, CHRNG, CHST14, CNTNAP1, DHCR24, DNM2, DOK7, DPM2, ECEL1, ERBB3, ERCC1, ERCC2,, ERCC5, ERCC6, FBN2, FIG4, FKBP10, FKRP, FKTN, GBA, GBE1, GFPT1, GLE1, HSPG2, IBA57, KIF14, KIF1A, KIF5C, LGI4, LMNA, MUSK, MYBPC1, MYH2, MYH3, MYH8, NALCN, PI4KA, PIEZO2, PIP5K1C, PLEC, PLOD2, POMT1, POMT2, RAPSN, SLC35A3, SLC5A7, SOX10, TNNI2, TNNT3, TPM2, TRIP4, TRPV4, UBA1, VIPAS39, VPS33B, VRK1, ZBTB42, ZC4H2, ZMPSTE24
(75 genes, 228,09 kb)


Single gene diagnostics:

MYBPC1, MYH3, MYH8, PIEZO2, TNNI2, TNNT3, TPM

Distal myopathy

Small panel (#081)

CAV3, CRYAB, DES, FLNC, GNE, MATR3, MYH7, TPM2, VCP
(9 genes, 24,4 kb)


Single gene diagnostics:

CAV3, MYH7, TPM2

Fetal akinesia deformation sequence (FADS)

Small panel (#088)

CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CNTN1, DOK7, KLHL40, MTM1, MUSK, NALCN, RAPSN, UBA1
(13 genes, 24,9 kb)


Single gene diagnostics:

CHRNA1, CHRND, CHRNE, CHRNG, DOK7, MUSK, RAPSN, UBA1 (Hot Spots)

Limb-girdle muscular dystrophy

Small panel (#079)

ANO5, CAPN3, CAV3, DYSF, FKRP, LMNA, MYOT, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG
(13 genes, 25,2 kb)


Single gene diagnostics:

ANO5, CAPN3, CAV3, DNAJB6, DYSF, FKRP, GMPPB, ISPD, LMNA, MYOT, POMK, POMT1, POMT2

Hereditary sensorimotor neuropathy

Small panel (#085)

1. MLPA PMP22, 2. ARHGEF10, ATL3, COX6A1, DHTKD1, GAN, GARS, GDAP1, GJB1, HSPB1, MFN2, MPZ, NEFL, PMP22, SH3TC2, SOD1
(15 genes, 24,7 kb)


Single gene diagnostics:

SOD1

Hereditary spastic paraplegia

Small panel (#086)

ATL1, CYP7B1, PLP1, REEP1, SPAST, SPG11, SPG7, ZFYVE26
(8 genes, 23,8 kb)

Congenital muscular dystrophy

Small panel (#078)

COL6A1, COL6A2, FKRP, FKTN, LAMA2, POMGNT1, POMT1, POMT2
(8 genes, 24,8 kb)


Single gene diagnostics:

B3GALNT2, B3GNT1, COL6A1, COL6A2, COL6A3, FKRP, FKTN, GMPPB, ISPD, LARGE, POMGNT1, POMGNT2, POMK, POMT1, POMT2,TMEM5

Congenital myasthenia/multiple pterygium syndrome

Small panel (#083)

CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, GFPT1, MUSK, RAPSN, SCN4A
(13 genes, 25,2 kb)


Single gene diagnostics:

CHRNA1, CHRND, CHRNE, CHRNG, COLQ, DOK7, MUSK, RAPSN

Congenital myopathy

Small panel (#080)

ACTA1, BIN1, DNM2, MTM1, RYR1, SEPN1, TPM3
(7 genes, 25 kb)


Single gene diagnostics:

ACTA1, MEGF10, MYH7, SEPN1

Motor neuron diseases (SMA, ALS, SMARD1)

Small panel (#084)

ASAH1, BICD2, DCTN1, DNAJB2, FUS, GARS, HSPB1, HSPB8, IGHMBP2, PLEKHG5, SOD1, TARDBP, TRPV4, VRK
(14 genes, 24,9 kb)


Single gene diagnostics:

1. SMN1 MLPA , 2. SMN1 point mutation analysis

SMN2*, ALS2, BICD2, FUS, IGHMBP2*, SOD1, TARDBP, TRPV4, UBA1 (Hot Spots), VAPB

Myotonic syndromes

Small panel (#082)

ATP2A1, CAV3, CLCN1, HSPG2, SCN4A
(5 genes, 25,1 kb)

Single gene diagnostics:

CAV3

Congenital cranial dysinnervation syndromes

Small panel (#273)

CHN1, COL25A1, DCC, HOXA1, HOXB1, KIF21A, MAFB, PHOX2A, ROBO3, TUBB2B, TUBB3, TUBB6
(12 genes, 24,65 kb)


Large panel (#456)

CHD7, CHN1, COL25A1, DCC, ECEL1, HOXA1, HOXB1, HOXB2, KIF21A, KIF2A, KIF5C, MAFB, MYF5, MYF6, MYMK, PHOX2A, PLXND1, REV3L, ROBO3, SALL4, SEMA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB6, TUBG1
(28 genes, 70,35 kb)

Möbius syndrome

Small panel (#385)

HOXB1, PLXND1, REV3L, TUBB3
(4 genes, 17,43 kb)

Full panel neuromuscular diseases

Large panel (#89)

All genes in the panel (463 genes, 1264 kb)

Single genes

ACTA1, ANO5, B3GALNT2, B4GAT1, BICD2, CAPN3, CAV3, CHRNA1, CHRND, CHRNE, COL3A1*, COL6A1, COL6A2, COL6A3, COLQ, DMD*, DNAJB6, DOK7, DYSF, FKBP10, FKRP, FKTN, FUS, GMPPB, IGHMBP2, INF2, ISPD, LAMB2, LARGE, LMNA, LMX1B*, MEGF10, MUSK, MYBPC1, MYBPC3, MYH3, MYH7, MYH8, MYOT, PIEZO2, PLOD2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RAPSN, SEPN1, SMN1*, SOD1, TARDBP, TMEM5, TNNI2, TNNT3, TPM2, TRPV4, UBA1, VAPB, WNK1, ZBTB42

Contact

Dr. Mert Karakaya
Telephone +49 221 478-86826
Email mert.karakaya@uk-koeln.de

Prof. Dr. Christian Netzer
Telephone +49 221 478-89586
Email christian.netzer@uk-koeln.de​​​​​​​

Request form

Neuromuscular diseases
Download 941 KB
Nach oben scrollen