|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Ataxia-Telangiectasia
|
ATM Whole Gene Analysis
|
>95%
|
6 Months
|
|
|
Western Blot & Radiosensitivity Assay
ATM Protein Analysis
|
>99%
|
4-5 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Lokus
|
Protein
|
|
- Louis-Bar Syndrome
|
208900
|
Autosomal Recessive
|
ATM
|
607585
|
11q22.3
|
Serine-Protein Kinase ATM
|
|
DNA
|
CDS
|
Exon
|
|
143 kb
|
9167 bp
|
64
|
|
|
Method
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
Sequencing
|
BloodEDTA
|
5 ml
|
Lavender-top
|
18-24 C0
|
Frozen, Hemolyzed Specimens
|
The sample should be send with written consent of the patient.
|
|
Western Blot & Radiosensitivity Assay
|
BloodHEP
|
5-10 ml
|
Green- top
|
18-24 C0
|
Frozen, Hemolyzed Specimens
|
The sample should be send with written consent of the patient.
|
|
| |
|
|
آخر تحديث يوم الخميس, 14 أبريل/نيسان 2011 18:12 |
