|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Dent Disease 1
|
CLCN5 Whole Gene Analysis
|
60-87%
|
1-2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Nephrolithiasis, Hypercalciuric, X-Linked
- Urolithiasis, Hypercalciuric, X-Linked
- Nephrolithiasis 2, NPHL2
|
300009
|
X-Linked Recessive
|
CLCN5 (CLCK2)
|
300008
|
Xp11.22
|
Chloride Channel 5
|
|
DNA
|
CDS
|
Exon
|
|
23.36 kb
|
2239 bp
|
12
|
|
|
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 16:48 |
