Neuromuscular diseases

Amyotrophic lateral sclerosis, familial
Gene OMIM Method

ALS2

FUS

SOD1

TARDBP

VABP

606352

137070

147450

605078

605704

Sequencing

Other diagnoses (consultation)

Distal arthrogryposis, dominant
Gene OMIM Method
MYBPC1

MYH3

MYH8

TNNI2

TNNT3

TPM2

PIEZO2

160794

160720

160741

191043

600692

190990

613629

Sequencing
Fetal akinesia, congenital myasthenia, recessive
Gene OMIM Method
RAPSN

CHRNA1

CHRND

CHRNG

CHRNE

DOK7

MUSK

COLQ

601592

100690

100720

100730

100725

610285

601296

603033

Sequencing

Other diagnoses (consultation)

Pontocerebellar hypoplasia, recessive
Gene OMIM Method
CASK

TSEN2

TSEN34

TSEN54

RARS2

300172

608753

608754

608755

611524

Sequencing
Pontocerebellar hypoplasia, dominant
Gene OMIM Method
SEPSECS 613009 Sequencing
Spinal muscular atrophy, recessive
Gene OMIM Method
SMN1

SMN2

600354

601627

Sequencing

Microsatellites

MLPA

Spinal muscular atrophy, dominant
Gene OMIM Method
BICD2

TRPV4

609797

605427

Sequencing
Spinal muscular atrophy with difficulty breathing, recessive
Gene OMIM Method
IGHMBP2 600502 Sequencing

MLPA

Spinal muscular atrophy, x-chromosomal
Gene OMIM Method
UBA1 314370 Sequencing

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​​​​​​​

Access the request form here.

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