|
Antithrombin 3 Deficiency |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Antithrombin 3 Deficiency
|
SERPINC1 Whole Gene Analysis
|
~70%
|
2-3 Months
|
|
|
SERPINC1 Deletion/Duplication Analysis
|
~10%
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Thrombophilia, Hereditary,
Due to Deficiency of AT-3
|
107300
|
Autosomal Dominant
|
SERPINC1 (AT3)
|
107300
|
1q24-q25.1
|
- Serpin Peptidase Inhibitor,
Clade C (Antithrombin),
Member 1
- Antithrombin 3, AT3
|
|
DNA
|
CDS
|
Exon
|
|
13.37 kb
|
1395 bp
|
7
|
|
|
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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| |
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Last Updated on Wednesday, 13 April 2011 17:50 |
