全エクソンシークエンス解析
Whole Exome Sequencing SNP Microarray - Pediatric/ Postnatal/ POC
Finding causes of diseases EFFICIENTLY
Whole exome sequencing (WES) is a cost-effective way to identify genetic basis of disorders. Unlike the traditional genetic test that detects one specific gene, WES can test many genes at one time.
Utilizing Different Tools can increases the possibility for diagnostic
For severe intellectual disability as example, the diagnostic rate of the SNP array was 12%. After that, the group of patients in whom no genetic cause was identified were used the WES to test and the diagnostic rate was 27%1.
The testing is ideal for individuals with
|
|
Whole exome sequencing (WES) |
SNP Microarray |
|
Application |
|
|
|
Detection |
De novo mutations, inherited SNP sites, etc..
|
|
Why choose GGA WES?
- COMPREHENSIVE genetic counseling
professional data analysis and counseling support to clinicians
- POWERFUL database
> 50 international database (OMIM, ExAC, ClinVar…)
> 400K Asia database
- EFFICIENTLY finding diseases
GGA have both WES and SNP microarray that can detect different gene-level alterations at the same time
Reanalysis serves
Specimen Require and Notice
- DNA：more than 3 μg (260/280 ratio greater than 1.8) into eppendorf tube and seal with parafilm
- Blood：3-5mL in Lavender top tube (EDTA)
- Turnaround time (TAT): 8-10 weeks from receiving specimen
Related Services
- GGA SNP Microarray for Products of Conception (POC) Test
- Prenatal Genetic Testing - SNP Array
- SNP Microarray for Postnatal Test
Reference:
-
Nature. 2014 Jul 17;511(7509):344-7.
If your clinic or physicians are interested in our services or need more information, please feel free to email us: GGA@GGA.Asia
