|
Dystrophic Epidermolysis Bullosa |
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Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Autosomal Dominant
|
Autosomal Recessive
|
|
Dystrophic Epidermolysis Bullosa
|
COL7A1 Sequence Analysis (Exons 73-76)
|
75%
|
x
|
1 Month
|
|
|
COL7A1 Whole Gene Analysis
|
95%
|
95%
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
|
- Epidermolysis Bullosa Dystrophica, Autosomal Recessive
- Epidermolysis Bullosa Dystrophica, Type Hallopeau-Siemens
- Epidermolysis Bullosa Dystrophica, Localisata Variant
|
226600
|
Autosomal Dominant & Recessive
|
COL7A1
|
120120
|
3p21.31
|
Collagen, Type VII, Alpha 1
|
|
|
- Epidermolysis Bullosa Dystrophica, Autosomal Dominant
- Epidermolysis Bullosa Dystrophica, Pasini Type
- Albopapuloid Dominant Dystrophic Epidermolysis Bullosa
- Epidermolysis Bullosa, Pretibial with Lichenoid Features
|
131750
131850
|
|
|
- Epidermolysis Bullosa With Congenital Localized Absence of Skin
and Deformity Of Nails
- Epidermolysis Bullosa Dystrophica, Bart Type
|
132000
|
DNA
|
CDS
|
Exon
|
|
|
31.09 kb
|
8834 bp
|
118
|
|
|
- Epidermolysis Bullosa Dystrophica, Neonatal, A.D
- Toenail Dystrophy, Isolated
|
131705
|
|
|
- Epidermolysis Bullosa Pruriginosa, A.D & A.R
|
604129
|
|
|
- Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage
- Epidermolysis Bullosa Simplex Superficialis
- Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type
|
607600
|
|
|
|
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.
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Last Updated on Thursday, 21 April 2011 17:35 |
