|
Amyotrophic Lateral Sclerosis, ALS |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Amyotrophic Lateral Sclerosis, ALS
|
SOD1 Whole Gene Analysis
|
20%
|
2-3 Months
|
|
|
FUS Whole Gene Analysis
|
5%
|
2-3 Months
|
|
|
TARDBP Whole Gene Analysis
|
2-6%
|
2-3 Months
|
|
|
ANG Whole Gene Analysis
|
Rare
|
2-3 Months
|
|
|
Amyotrophic Lateral Sclerosis Panel
|
SOD1, FUS, TARDBP, ANG Whole Gene Analysis
|
~35%
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- ALS
- Amyotrophic Lateral Sclerosis 1
- Amyotrophic Lateral Sclerosis, Familial, FALS
- Lau Gehrig Disease
|
105400
|
Autosomal Dominant
Rarely Autosomal Recessive
|
SOD1
|
147450
|
21q22.11
|
Copper/Zinc Superoxide Dismutase
|
|
DNA
|
CDS
|
Exon
|
|
8.97 kb
|
465 bp
|
5
|
|
FUS
|
137070
|
16p11.2
|
FUS-CHOP Fusion Protein
|
|
DNA
|
CDS
|
Exon
|
|
11.46 kb
|
1581 bp
|
15
|
|
TARDBP
|
605078
|
1p36.21
|
TAR Dna-Binding Protein
|
|
DNA
|
CDS
|
Exon
|
|
11.42 kb
|
1245 bp
|
6
|
|
ANG
|
105850
|
14q11.2
|
Angiogenen
|
|
DNA
|
CDS
|
Exon
|
|
0.73 kb
|
444 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 Tuesday, 01 February 2011 17:35 |
