|
Frontometaphyseal Dysplasia, FMD |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Frontometaphyseal Dysplasia, FMD
|
FLNA Whole Gene Analysis
|
57%
|
3-4 Months
|
|
|
FLNA Mutation Analysis (Carrier Testing)
|
x
|
4-5 Weeks
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Frontometaphyseal Dysplasia, FMD
|
305620
|
X-linked
|
FLNA
|
300017
|
Xq28
|
Filamin-A
|
|
DNA
|
CDS
|
Exon
|
|
25.96 kb
|
7944 bp
|
48
|
|
|
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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| |
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Last Updated on Friday, 29 April 2011 15:22 |
