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Hereditary neuropathies

Disease (gene) Method Material Processing time
Amyloidosis, Transthyretin-related, hereditary (TTR)* 1. Sequencing exon 2
2. Sequencing (complete)
EDTA blood / DNA 1. 8-10 days
2. 1-2 weeks
Charcot-Marie-Tooth disease, demyelinating, 1A (PMP22) 1. Deletion-/Duplikationanalyse (MLPA)
2. Sequencing (complete)
EDTA blood 1. 8-10 days
2. 1-2 weeks
Charcot-Marie-Tooth disease, demyelinating, 1B (MPZ) Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Charcot-Marie-Tooth disease, demyelinating, 1C (LITAF)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Charcot-Marie-Tooth disease, demyelinating, 1D (EGR2)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Charcot-Marie-Tooth disease, demyelinating, 1F (NEFL)* Sequencing (complete) + promoter EDTA blood / DNA 2-3 weeks
Charcot-Marie-Tooth disease, axonal, 2A1 (KIF1B)* 1. Sequencing exon 4 (Q98L)
2. Sequencing (complete)
EDTA blood / DNA 1. 8-10 days
2. 3-4 weeks
Charcot-Marie-Tooth disease, axonal, 2A2 (MFN2)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Charcot-Marie-Tooth disease, axonal, 2B (RAB7A)* 1. Sequencing exons 4 & 5
2. Sequencing (complete)
EDTA blood / DNA 1. 8-10 days
2. 2-3 weeks
Charcot-Marie-Tooth disease, axonal, 2B1 (LMNA)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Charcot-Marie-Tooth disease, axonal, 2D (GARS)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Charcot-Marie-Tooth disease, axonal, 2E (NEFL)* Sequencing (complete) + Promotor EDTA blood / DNA 2-3 weeks
Charcot-Marie-Tooth disease, axonal, 2F (HSPB1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Charcot-Marie-Tooth disease, axonal, 2I (MPZ) Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Charcot-Marie-Tooth disease, axonal, 2J (MPZ) Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Charcot-Marie-Tooth disease, axonal, 2K (GDAP1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Charcot-Marie-Tooth disease, axonal, 2L (HSPB8)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Charcot Marie Tooth disease 4A (GDAP1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Charcot Marie Tooth disease 4B1 (MTMR2)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Charcot Marie Tooth disease 4B2 (SBF2)* 1. Sequencing exons 14, 23, 27, 32
2. Sequencing (complete)
EDTA blood / DNA 1. 8-10 days
2. 3-4 weeks
Charcot Marie Tooth disease 4C (SH3TC2)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Charcot Marie Tooth disease 4D (NDRG1)* 1. Sequencing exon 6 (R148X) & exon 9 (IVS8-1G>A)
2. Sequencing (complete)
EDTA blood / DNA 1. 8-10 days
2. 3-4 weeks
Charcot Marie Tooth disease 4F (PRX)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Charcot Marie Tooth disease X1 (GJB1) Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Charcot Marie Tooth disease X5 (PRPS1)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Hereditary Neuralgic Amyotrophy (SEPT9) 1. Sequencing exon 1 (c.-131G>C) & exon 2 (R88W, & S93F)
2. MLPA
3. Sequencing (complete)
EDTA blood 1. 8-10 days
2. 8-10 days
3. 2-3 weeks
Hereditary Neuropathy with liability to Pressure Palsies (PMP22) 1. Deletion-/Duplikationanalyse (MLPA)
2. Sequencing (complete)
EDTA blood 1. 8-10 days
Dominant Intermediate Charcot Marie Tooth disease B (DNM2)* 1. Sequencing exons 15 & 16
2. Sequencing (complete)
EDTA blood / DNA 1. 8-10 days
2. 3-4 weeks
Dominant Intermediate Charcot Marie Tooth disease C (YARS)* 1. Sequencing exon 2 (G41R) , exon 4 (c.458-469del) & exon 5 (E196R)
2. Sequencing (complete)
EDTA blood / DNA 1. 8-10 days
2. 3-4 weeks
Dominant Intermediate Charcot Marie Tooth disease D (MPZ) Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Neuronopathy, distal hereditary motor, 2A (HSPB8)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Neuronopathy, distal hereditary motor, 2B (HSPB1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Neuronopathy, distal hereditary motor, 5 (GARS)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Neuronopathy, distal hereditary motor, 6 (IGHMP2)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Neuronopathy, distal hereditary motor, 7B (DCTN1)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Neuropathy, sensory and autonomic, hereditary, 1 (SPTLC1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Neuropathy, sensory and autonomic, hereditary, 2 (WNK1/HSN2 Exon)* Sequencing of the WNK1/HSN2 exon EDTA blood / DNA 2-3 weeks
Neuropathy, sensory and autonomic, hereditary, 3 (IKBKAP)* 1. Sequencing exons 19, 20, 26
2. Sequencing (complete)
EDTA blood / DNA 1. 8-10 days
2. 2-3 weeks
Neuropathy, sensory and autonomic, hereditary, 4 (NTRK1)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Neuropathy, sensory and autonomic, hereditary, 5 (NGFB)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
* analysis currently not accredited

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