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Charcot-Marie-Tooth Neuropathy Type [2 - 2A1 - 2A2 - 2B - 2B1 - 2D - 2E/1F - 2I/2J - 2K - 2L] |
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Disease/Test Name
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Gene Name & Method
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Proportion of CMT2 Attributed to Mutations in this Gene
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Diagnostic Value
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Turn Around Time
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Price
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Charcot-Marie-Tooth Neuropathy Type 2, CMT2
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KIF1B, MFN2, RAB7, LMNA, GARS, NEFL, MPZ, GDAP1, CJB1 Whole Gene Analysis
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>%20-30
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%100
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3-4 Months
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Charcot-Marie-Tooth Neuropathy Type 2A1, CMT 2A1
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KIF1B Whole Gene Analysis
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rare
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%100
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2-3 Months
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|
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Charcot-Marie-Tooth Neuropathy Type 2A2, CMT 2A2
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MFN2 Whole Gene Analysis
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%20-30
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%100
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2-3 Months
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|
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Charcot-Marie-Tooth Neuropathy Type 1B, CMT 1B
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RAB7 Whole Gene Analysis
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rare
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%100
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2-3 Months
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|
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Charcot-Marie-Tooth Neuropathy Type 2B1, CMT 2B1
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LMNA Whole Gene Analysis
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%100
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2-3 Months
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|
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Charcot-Marie-Tooth Neuropathy Type 2D, CMT 2D
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GARS Whole Gene Analysis
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%100
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2-3 Months
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|
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Charcot-Marie-Tooth Neuropathy Type 2E/1F, CMT 2E/1F
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NEFL Whole Gene Analysis
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%100
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2-3 Months
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|
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Charcot-Marie-Tooth Neuropathy Type 2I/2J, CMT 2I/2J
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MPZ Whole Gene Analysis
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%100
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2-3 Months
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Charcot-Marie-Tooth Neuropathy Type 2K, CMT2K
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GDAP1 Whole Gene Analysis
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%100
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2-3 Months
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Charcot-Marie-Tooth Neuropathy Type 2L, CMT2L
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HSPB8 Whole Gene Analysis
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%100
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2-3 Months
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Disease Name (Synonym)
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Disease OMIM
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Inheritance
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Gene
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Gene OMIM
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Locus
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Protein
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Charcot-Marie-Tooth Neuropathy Type 2/2A1
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118210
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Autosomal Dominant
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KIF1B
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605995
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1p36.2
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Kinesin-Like Protein KIF1B
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DNA
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CDS
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Exon
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167.13 kb
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6816 bp
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47
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Charcot-Marie-Tooth Neuropathy Type 2A2
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609260
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Autosomal Dominant
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MFN2
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608507
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1p36.2
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Mitofusin-2
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DNA
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CDS
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Exon
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40.08 kb
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2274 bp
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19
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Charcot-Marie-Tooth Neuropathy Type 2B
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600882
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Autosomal Dominant
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RAB7
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602298
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3q21
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Ras-Related Protein Rab-7a
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DNA
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CDS
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Exon
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88 kb
|
?
|
6
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Charcot-Marie-Tooth Neuropathy Type 2B1
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605588
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Autosomal Recessive
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LMNA
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150330
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1q21.2
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Lamin-A/C
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DNA
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CDS
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Exon
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25.37 kb
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1995 bp
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12
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Charcot-Marie-Tooth Neuropathy Type 2D
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601472
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Autosomal Dominant
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GARS
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600287
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7p15
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Glycyl-tRNA Synthetase
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DNA
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CDS
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Exon
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39.46 kb
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2058 bp
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17
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Charcot-Marie-Tooth Neuropathy Type 2E/1F
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607684
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Autosomal Dominant
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NEFL
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162280
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8p21
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Neurofilament Light Polypeptide
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DNA
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CDS
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Exon
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3.71 kb
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1633 bp
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4
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Charcot-Marie-Tooth Neuropathy Type 2I
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607677
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Autosomal Dominant
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MPZ
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159440
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1q22
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Myelin P0 Protein
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|
DNA
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CDS
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Exon
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5.22 kb
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777 bp
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6
|
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Charcot-Marie-Tooth Neuropathy Type 2J
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607736
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Autosomal Dominant
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MPZ
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159440
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1q22
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Myelin P0 Protein
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DNA
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CDS
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Exon
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5.22 kb
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777 bp
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6
|
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Charcot-Marie-Tooth Neuropathy Type 2K
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607831
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Autosomal Recessive
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GDAP1
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606598
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8q13-q21.1
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Ganglioside-Induced Differentiation-Associated Protein 1
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DNA
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CDS
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Exon
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13.90 kb
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1077 bp
|
6
|
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Charcot-Marie-Tooth Neuropathy Type 2L
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608673
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Autosomal Dominant
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HSPB8
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608014
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12q24
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Heat Shock Protein Beta-8
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DNA
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CDS
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Exon
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|
15 kb
|
? bp
|
3
|
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Sample
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Volume
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Tube
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Transport
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Unacceptable Conditions
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Remarks
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BloodEDTA
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5 ml
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Lavender-top
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18-24 C0
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Frozen, hemolyzed specimens
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The sample should be send with written consent of the patient.
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Last Updated on Wednesday, 20 April 2011 18:04 |
