|
Charcot-Marie-Tooth Neuropathy Type [1A - 1B - 1C - 1D - 1E - 2E/1F] |
|
Disease/Test Name
|
Gene Name & Method
|
Proportion of CMT1 Attributed to Mutations in this Gene
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Charcot-Marie-Tooth Neuropathy Type 1A, CMT1A
|
PMP22 Deletion/Duplication Analysis
|
70-80%
|
100%
|
20 Days
|
|
|
Charcot-Marie-Tooth Neuropathy Type 1B, CMT1B
|
MPZ Whole Gene Analysis
|
5-10%
|
100%
|
2-3 Months
|
|
|
Charcot-Marie-Tooth Neuropathy Type 1C, CMT1C
|
LITAF Whole Gene Analysis
|
1-2%
|
100%
|
2-3 Months
|
|
|
Charcot-Marie-Tooth Neuropathy Type 1D, CMT1D
|
EGR2 Whole Gene Analysis
|
<2%
|
100%
|
2-3 Months
|
|
|
Charcot-Marie-Tooth Neuropathy Type 1E, CMT1E
|
PMP22 Whole Gene Analysis
|
<5%
|
100%
|
2-3 Months
|
|
|
Charcot-Marie-Tooth Neuropathy Type 2E/1F, CMT2E/1F
|
NEFL Whole Gene Analysis
|
<5%
|
100%
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Hereditary Neuropathy 1A
- Hereditary Motor and Sensory Neuropathy IA
- HMSN IA
- Hereditary Neuropathy with Liability to
Pressure Palsies, HNPP
|
118220
|
Autosomal Dominant
|
PMP22 (GAS3)
|
601097
|
17p11.2
|
Peripheral Myelin Protein 22
|
|
DNA
|
CDS
|
Exon
|
|
35.55 kb
|
483 bp
|
5
|
|
- Hereditary Neuropathy 1B
- Hereditary Motor and Sensory Neuropathy 1B
- HMSN 1B
|
118200
|
MPZ
|
159440
|
1q22
|
Myelin P0 Protein
|
|
DNA
|
CDS
|
Exon
|
|
5,23 kb
|
777 bp
|
6
|
|
- Hereditary Neuropathy 1C
- Hereditary Motor and Sensory Neuropathy IC
- HMSN IC
|
601098
|
LITAF
|
603795
|
16p13.3-p12
|
Lipopolysaccharide-Induced Tumor Necrosis Factor-Alpha Factor
|
|
DNA
|
CDS
|
Exon
|
|
37,77 kb
|
686 bp
|
4
|
|
- Hereditary Neuropathy 1D
- Hereditary Motor and Sensory Neuropathy 1D
- HMSN 1D
|
607678
|
EGR2
|
129010
|
10q21.1-q22.1
|
Early Growth Response Protein 2
|
|
DNA
|
CDS
|
Exon
|
|
4,37 kb
|
1431 bp
|
2
|
|
- Hereditary Neuropathy 1E
|
118300
|
PMP22
|
601097
|
17p11.2
|
Peripheral Myelin Protein 22
|
|
DNA
|
CDS
|
Exon
|
|
35.55 kb
|
483 bp
|
5
|
|
- Hereditary Neuropathy 2E/1F
|
607734
|
NEFL
|
162280
|
8p21
|
Neurofilament Light Polypeptide
|
|
DNA
|
CDS
|
Exon
|
|
3,71 kb
|
1633 bp
|
4
|
|
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
BloodEDTA
|
5 ml
|
Lavender-top
|
18-24 C0
|
Frozen, hemolyzed specimens
|
The sample should be send with written consent of the patient.
|
|
| |
|
|
Last Updated on Wednesday, 20 April 2011 15:57 |
