Testing Service

Whole Exome Sequencing - Pediatric/Postnatal

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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

  • A complex/ multiple symptom
  • Unspecified diagnosis/ complex etiology
  • Negative single gene or gene panel sequencing results
  • Disorders with significant genetic heterogeneity
  • Unexplained developmental delay/intellectual disorder (DD/ID)
  • Autistic spectrum disorder (ASD)
  • Multiple congenital anomalies (MCA).

Detection

  • Point mutations of single genes

De novo mutations, inherited SNP sites, etc..

  • Insertion-deletion polymorphisms (InDels)
  • Chromosomal Aneuploidies
  • Chromosomal Copy Number Variants (microduplication/microdeletion)
  • Uniparental disomy(UPD)

 

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
  1. GGA SNP Microarray for Products of Conception (POC) Test
  2. Prenatal Genetic Testing - SNP Array
  3. SNP Microarray for Postnatal Test

 

Reference:
  1. 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

 

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