|
Blackfan-Diamond Anemia, DBA |
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Disease/Test Name
|
Gene Name & Method
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Diagnostic Value
|
Turn Around Time
|
Price
|
|
Blackfan-Diamond Anemia, DBA
|
RPS19 Whole Gene Analysis
|
x
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- AASE-Smith Syndrome 2
- Erythrogenesis Imperfecta
|
105650
|
Autosomal Dominant with Variable Expressivity
|
RPS19
|
603474
|
19q13.2
|
Ribosomal Protein S19
|
|
DNA
|
CDS
|
Exon
|
|
11,19 kb
|
438 bp
|
6
|
|
|
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 Saturday, 16 April 2011 17:21 |
