|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Alagille Syndrome, ALGS
|
JAG1 Whole Gene Analysis
|
~%88
|
2 Months
|
|
|
Del 20p12 FISH Analysis
|
~%7
|
1 Month
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Arteriohepatic Dysplasia
- JAG1-Related Alagille
Syndrome
|
118450
|
Autosomal Dominant
|
JAG1 (JAGL1)
|
601920
|
20p12
|
Jagged-1
|
|
DNA
|
CDS
|
Exon
|
|
36.26 kb
|
3657 bp
|
26
|
|
|
Test Method
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
|
FISH
|
BloodHep
|
3-5 ml
|
Green-top
|
2-8 C0
|
Frozen, Hemolyzed Specimens
|
|
AF
|
10-20 ml
|
Injector
|
|
CVS
|
10 mg
|
Transport Medium
|
|
|
Test Method
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
|
Sequence Analysis
|
BloodEDTA
|
5 ml
|
Lavender-top
|
2-8 C0
|
Frozen, Hemolyzed Specimens
|
|
|
*Please contact with our lab for prenatal diagnosis
|
|
|
Last Updated on Monday, 31 January 2011 16:52 |
