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Neuromuscular diseases
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Neuromuscular diseases

For any questions regarding clinical issues, please get in contact with Dr. Mert Karakaya, MD (0221-478-86826, [Email protection active, please enable JavaScript.]) or Prof. Dr. C. Netzer, MD (+49-221-478-89586, [Email protection active, please enable JavaScript.]). The panel diagnostics request form (German) for neuromuscular diseases is available here.

 

Complete panel neuromuscular diseases

Single genes

 

Motor neuron diseases (SMA, ALS, SMARD1)

standard panel (#084)
ASAH1, BICD2, DCTN1, DNAJB2, FUS, GARS, HSPB1, HSPB8, IGHMBP2, PLEKHG5, SOD1, TARDBP, TRPV4, VRK

(14 genes, 24.9 kb)

MLPA: SMN1, SMN2

 

single gene diagnostics:
SMN1 point mutation analysis

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

 

Congenital muscular dystrophy

standard 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

 

Limb-girdle muscular dystrophy / LGMD

standard 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

 

Congenital myopathy

standard panel (#080)
ACTA1, BIN1, DNM2, MTM1, RYR1, SEPN1, TPM3

(7 genes, 25 kb)

 

single gene diagnostics:

ACTA1, MEGF10, MYH7, SEPN1

 

Distal myopathy

standard panel (#081)
CAV3, CRYAB, DES, FLNC, GNE, MATR3, MYH7, TPM2, VCP

(9 genes, 24.4 kb)

 

single gene diagnostics:

CAV3, MYH7, TPM2

 

Myotonic syndromes

standard panel (#082)
ATP2A1, CAV3, CLCN1, HSPG2, SCN4A

(5 genes, 25.1 kb)

 

single gene diagnostics:

CAV3

 

Congenital myasthenia / multiple pterygium syndrome

standard 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

 

Fetal akinesia deformation sequence / FADS

standard 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)

 

Hereditary motor and sensory neuropathy

standard panel (#085)
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

standard panel (#086)
ATL1, CYP7B1, PLP1, REEP1, SPAST, SPG11, SPG7, ZFYVE26

(8 genes, 23.8 kb)

 

Distal arthrogryposis

standard panel (#087)
FBN2, MYH3, PIEZO2, TNNI2, TNNT3, TPM2

(6 genes, 25 kb)

 

single gene diagnostics:

MYBPC1, MYH3, MYH8, PIEZO2, TNNI2, TNNT3, TPM2

 

Complete panel neuromuscular diseases

complete panel (#89)
all genes of our NMD-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