|
Periodic Fever, Familial, Autosomal Dominant (TRAPS) Genetic Analysis |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Familial Periodic Fever, TRAPS
Autosomal Dominant
|
TNFRSF1A Sequence Analysis (Exon 2-5)
|
30-47%
|
2-3 Months
|
|
|
TNFRSF1A Whole Gene Analysis
|
32-50%
|
2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Periodic Fever, Familial, FPF
- Hibernian Fever, Familial, FHF
- Familial Hibernian Fever
- Tumor Necrosis Factor Receptor
Associated Periodic Syndrome,
TRAPS
- TNF Receptor-Associated Periodic
Syndrome
|
142680
|
Autosomal Dominant
|
TNFRSF1A (TNFR1)
|
191190
|
12p13.2
|
Tumor Necrosis Factor Receptor Superfamily, Member 1A
|
|
DNA
|
CDS
|
Exon
|
|
13.34 kb
|
1368 bp
|
10
|
|
|
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.
|
|
| |
|
|
آخر تحديث يوم الإثنين, 31 يناير/كانون ثان 2011 15:40 |
