|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Angelman Syndrome
|
Del 15q11-q13 FISH Analysis
|
~68%
|
20 Days
|
|
|
UBE3A Whole Gene Analysis
|
~11%
|
3 Months
|
|
|
UBE3A UPD Analysis ( Chromosome 15, Paternal)
|
~7%
|
2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Happy Puppet Syndrome
|
105830
|
x
|
UBE3A (E6AP)
|
601623
|
15q11-q13
|
Ubiquitin-Protein Ligase E3A
|
|
DNA
|
CDS
|
Exon
|
|
101.73 kb
|
2619 bp
|
13
|
|
|
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
|
|
|
Test Method
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
Sequencing
|
BloodEDTA
|
3-5 ml
|
Lavender-top
|
2-8 C0
|
Frozen, hemolyzed specimens
|
The sample should be send with written consent of the patient.
|
|
UPD
|
|
| *Please contact with our lab for prenatal diagnosis |
|
|
Last Updated on Wednesday, 13 April 2011 17:24 |
