|
Rubinstein-Taybi Syndrome |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Rubinstein-Taybi Syndrome
|
CREBBP Whole Gene Analysis
|
%30-40
|
2-3 Months
|
|
|
FISH Analysis (Del 16p13.3)
|
~%10
|
1 Month
|
|
|
EP300 Whole Gene Analysis
|
%3
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Broad Thumbs-Hallux Syndrome
|
180849
|
Autosomal Dominant
|
CREBBP
|
600140
|
16p13.3
|
CREB-Binding Protein
|
|
DNA
|
CDS
|
Exon
|
|
154.14 kb
|
7329 bp
|
32
|
|
EP300
|
602700
|
22q13
|
E1A-Binding Protein
|
|
DNA
|
CDS
|
Exon
|
|
87.75 kb
|
7245 bp
|
31
|
|
|
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.
|
|
|
Test Method
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
FISH Analysis
|
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 Friday, 14 October 2011 18:27 |
