|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Friedreich Ataxia, FRDA
|
FXN Triplet Repeat Analysis (GAA Repeats)
|
96%
|
45 Days
|
|
|
FXN Whole Gene Analysis
|
4%
|
6-8 Weeks
|
|
|
Mutation Analysis (Prenatal)
|
100%
|
1-2 Week
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Friedreich Ataxia, FRDA
|
229300
|
Autosomal Recessive
|
FXN (FARR)
|
606829
|
9q21.11
|
Frataxin
|
|
DNA
|
CDS
|
Exon
|
|
38,61 kb
|
x
|
5
|
|
|
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.
|
|
|
PS: For prenatal analysis the mutation could be detected in both parents.
|
|
|
آخر تحديث يوم الجمعة, 29 أبريل/نيسان 2011 15:18 |
