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Molekulargenetische Diagnostik

Moleculargenetic Diagnostics

Contact person for molecular genetics tests

Frau Birgit Neitzel
Tel. +49 (0)89/30 90 886-553

Moleculargenetic Diagnostics

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Neuropathies

Prof. Dr. Bernd Rautenstrauß, PD Dr. med. Angela Abicht

Hereditary Motor and Sensory Neuropathy, Overview, HMSN, CMT

Hereditary neuropathy with liability to pressure palsies, HNPP - PMP22

Hereditary Motor and Sensory Neuropathy Type 1, HMSN1, CMT1A - PMP22

Hereditary Motor and Sensory Neuropathy, HMSNX, CMTX1 - Cx32, GJB1

Hereditary Motor and Sensory Neuropathy - MPZ

Hereditary Motor and Sensory Neuropathy, CMT4C (Demyelinating) - SH3TC2

Hereditary Motor and Sensory Neuropathy with Cataract - HYCCIN

Congenital Cataract Facial Dysmorphism Neuropathy Syndrome, CCFDN - CTDP1

Hereditary Motor and Sensory Neuropathy Type 2, HMSN2, CMT2A2 (axonal) - MFN2

Hereditary Motor and Sensory Neuropathy Type 2, HMSN2, CMT2B1 (axonal) - LMNA

Hereditary Motor and Sensory Neuropathy Type, CMT2, Seipin - BSCL2 (exon 3)

Hereditary Motor and Sensory Neuropathy, CMT2B2 - MED25

Other HMSN-/ CMT-Genes: EGR2, FGD4, NEFL, LITAF/SIMPLE, NDRG1, PRX, GDAP1, RAB7, GARS, HSPB1, HSPB8, LMNA/C, DNM2

Distal Hereditary Motor Neuropathies, dHMN - HSPB8,GARS,DCTN1,SETX,BSCL2 (exon 3)

Giant Axon Neuropathie, GAN1 - GAN

Hereditary Sensory and Autonomic Neuropathie Type 1, HSAN1 - SPTLC1

Hereditäre Sensory Autonomic Neuropathie Type 4 and 5, HSAN4, 5 - NTRK1, NGFB

Hereditary Neuralgic Amyotrophie, HNA - SEPT9

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