|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Time
|
Price
|
|
Prader Willi Syndrome
|
PWCR Methylation Analysis
|
99%
|
2 Months
|
|
|
PWCR FISH Analysis (Del 15q-q13)
|
70-75%
|
20 Days
|
|
|
PWCR UPD
|
25%-29%
|
2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Critical Gene Region
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Prader-Labhart-Willi Syndrome
|
176270
|
x
|
PWCR (PAR1)
|
600161
|
15q11-q13
|
x
|
|
|
Test Method
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
UPD
|
BloodEDTA
|
3-5 ml
|
Lavender-top
|
2-8 C0
|
Frozen, hemolyzed specimens
|
The sample should be send with written consent of the patient.
|
|
Methylation Studies
|
|
|
Test Method
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
FISH
|
BloodHep
|
3-5 ml
|
Green-top
|
2-8 C0
|
Frozen, hemolyzed specimens
|
The sample should be send with written consent of the patient.
|
|
Amniotic Fluid
|
10-20 ml
|
Injector
|
|
CVS
|
10 mg
|
Transport Medium
|
|
|
|
Last Updated on Saturday, 23 July 2011 14:48 |
