|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Danon Disease
|
LAMP2 Whole Gene Analysis
|
x
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Vacuolar Cardiomyopathy and
Myopathy, X-Linked
- Pseudoglycogenosis 2
- Antopol Disease
- Lysosomal Glycogen Storage Disease
Without Acid Maltase Deficiency
- Glycogen Storage Disease 2B, GSD2B
|
300257
|
X-Linked Dominant
|
LAMP2
|
309060
|
Xq24
|
Lysosomal-Associated Membrane Protein 2
|
|
DNA
|
CDS
|
Exon
|
|
38.48 kb
|
1233 bp
|
9
|
|
|
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 Thursday, 21 April 2011 16:23 |
