|
Epidermolysis Bullosa Simplex |
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Disease/Test Name
|
Gene Name & Method
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Diagnostic Value
|
Turn Around Time
|
Price
|
|
Epidermolysis Bullosa Simplex
|
KRT5 & KRT14 Whole Gene Analysis
|
70%- 90%
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Inheritance
|
Gene OMIM
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Locus
|
Protein
|
|
- Epidermolysis Bullosa Simplex, Koebner Type
- Epidermolysis Bullosa Simplex , Weber-Cockayne Type
|
131800
|
Autosomal
Dominant/
Autosomal Recessive
|
KRT5
|
148040
|
12q13.2-q13.3
|
Keratin 5
|
|
DNA
|
CDS
|
Exon
|
|
5.88 kb
|
1773 bp
|
9
|
|
KRT14
|
148066
|
17q21.2
|
Keratin 14
|
|
DNA
|
CDS
|
Exon
|
|
|
1419 bp
|
8
|
|
|
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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