|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Charge Syndrome
|
CHD7 Whole Gene Analysis
|
60-70%
|
2-3 Months
|
|
|
Del 8q12.2 FISH Analizi
|
~15%
|
1 Month
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Charge Association--Coloboma,
Heart Anomaly, Choanal Atresia,
Retardation, Genital And Ear
Anomalies
- Hall-Hittner Syndrome, HHS
|
214800
|
Autosomal Dominant
|
CHD7
|
608892
|
8q12.2
|
Chromodomain Helicase DNA-Binding Protein 7
|
|
DNA
|
CDS
|
Exon
|
|
188.00 kb
|
x
|
38
|
|
|
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 10:40 |
