|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Feingold Syndrome
|
MYCN Sequencing Analysis (Exons 2-3 & 3’ UTR Region)
|
~65%
|
2 Month
|
|
|
MYCN Deletion/Duplication Analysis
|
%10
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Oculodigitoesophagoduodenal Syndrome
- ODED Syndrome
- Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome, MODED
|
164280
|
Autosomal Dominant (50% De Nova)
|
MYCN
|
164840
|
2p24.1
|
x
|
|
DNA
|
CDS
|
Exon
|
|
6.4 kb
|
1395 bp
|
3
|
|
|
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, 25 April 2011 10:55 |
