|
Alpha-1-Antitrypsin Deficiency |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Alpha-1-Antitrypsin Deficiency
|
Pi*Z, Pi*S, Pi*M Genotyping
|
95%
|
20 Days
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- A1AT Deficiency
- AAT Deficiency
|
107400
|
Autosomal Recessive
|
SERPINA1
|
x
|
14q32.1
|
Alpha-1 Antitrypsin
|
|
DNA
|
CDS
|
Exon
|
|
10.41 Kb
|
1257 bp
|
5
|
|
|
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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آخر تحديث يوم الثلاثاء, 01 فبراير/شباط 2011 16:56 |
