|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Alpha Thalassemia
|
HBA1 & HBA2 Mutation/Deletion Analysis
|
~90 %
|
45 Days
|
|
|
HBA1 & HBA2 Whole Gene Analysis
|
~10 %
|
2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Alpha Thalassemia
- Alpha Hemoglobinopathy
|
604131
|
Autosomal Recessive
|
HBA1
|
141800
|
16pter-p13.3
|
Hemoglobin Subunit Alpha
|
|
DNA
|
CDS
|
Exon
|
|
0.84 kb
|
1536 bp
|
3
|
|
HBA2
|
141850
|
16pter-p13.3
|
Hemoglobin Subunit Alpha
|
|
DNA
|
CDS
|
Exon
|
|
0.83 kb
|
858 bp
|
3
|
|
|
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.
|
|
| |
|
|
آخر تحديث يوم الإثنين, 31 يناير/كانون ثان 2011 18:03 |
