|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Barth Syndrome
|
TAZ Whole Gene Analysis
|
x
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- 3-Methylglutaconic Aciduria Type 2
- Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria
- MGA Type 2, MGA2
|
302060
|
X Linked
|
TAZ
|
300394
|
Xq28
|
Tafazzin
|
|
DNA
|
CDS
|
Ekzon
|
|
137.75 kb
|
1203 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.
|
|
| |
|
|
Last Updated on Friday, 15 April 2011 17:43 |
