|
|
Code
|
Test Name
|
Method
|
Mutation&Exon
|
Diagnostic Value
|
Time
|
Price
|
|
70230
|
- Williams Syndrome
- Williams Beuren Syndrome
|
FISH
|
Del 7q11.23
|
~99%
|
20 Days
|
|
|
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
194050
|
Autosomal Dominant
|
ELN
|
130160
|
7q11.23
|
Elastine
|
|
DNA
|
CDS
|
Exon
|
|
40,51 Kb
|
2274 bp
|
33
|
|
WBSCR14
|
605678
|
MLX interacting protein-like
|
|
DNA
|
CDS
|
Exon
|
|
31.00 kb
|
?
|
17
|
|
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
|
BloodHep
|
3-5 ml
|
Green-top
|
2-8 C0
|
Frozen, hemolyzed specimens
|
|
AF
|
10-20 ml
|
Injector
|
|
CVS
|
10 mg
|
Transport Medium
|
|
| |
|
|
Last Updated on Monday, 31 May 2010 11:38 |
