|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Dravet Syndrome
|
SCN1A Whole Gene Analysis & Deletion/Duplication Analysis
|
95%
|
3-6 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Severe Myoclonic Epilepsy in Infancy, SMEI
- Polymorphic Myoclonic
Epilepsy in İnfancy, PMEI
|
607208
|
Autosomal Dominant/De-Nova
|
SCN1A
|
182389
|
2q24
|
Sodium Channel Protein Type 1 Subunit Alpha
|
|
DNA
|
CDS
|
Exon
|
|
84.00 kb
|
5996 bp
|
26
|
|
|
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 Thursday, 21 April 2011 18:08 |
