|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Familial Hyperlipidemia
|
LPL Whole Gene Analysis
|
>99%
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Familial Hyperlipidemia/ Hyperlipemia
- Lipoprotein Lipase Deficiency
- Hyperlipemia, Idiopathic, Burger-Grutz Type
|
238600
|
Autosomal Recessive
|
LPL
|
609708
|
8p22
|
Lipoprotein Lipase
|
|
DNA
|
CDS
|
Exon
|
|
27.99 kb
|
1427 bp
|
10
|
|
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
BloodEDTA
|
5 ml
|
Lavender-top
|
18-24 C0
|
Frozen, hemolyzed specimens
|
The sample should be send with written consent of the patient.
|
|
| |
|
|
Last Updated on Monday, 31 January 2011 15:34 |
