|
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome, BPES
|
FOXL2 Whole Gene Analysis
|
72%
|
1 Months
|
|
|
FOXL2 Deletion/Duplication Analysis
|
10-15%
|
1 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- BPES Type 1
- BPES Type 2
- BPES With Ovarian Failure
- BPES Without Ovarian Failure
- BPES With Duane Retraction Syndrome
|
110100
|
Autosomal Dominant
|
FOXL2 (PFRK)
|
605597
|
3q23
|
Forkhead Box L2
|
|
DNA
|
CDS
|
Exon
|
|
2.74 kb
|
1131 bp
|
1
|
|
|
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.
|
|
| |
|
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Last Updated on Wednesday, 20 April 2011 14:24 |
