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Test Code:
090-71-3303

Order Name:
WES - CentoXome Trio + CNV **

 
Useful For:

For certain patients the combination of symptoms does not allow the clinician to pinpoint a potential diagnosis. In such challenging cases, often a stepwise diagnostic strategy is chosen, which makes the testing complex, time consuming, costly and often not even conclusive. Furthermore, a delayed diagnosis may have a significant impact on the patient’s treatment and quality of life.

For these cases, the use of broad, whole exome sequencing (WES) has advantages over initially more targeted genetic testing. Whereas such targeted genetic testing focuses on a single gene or on a limited set of predetermined genes, WES testing examines all the protein coding regions in the genome (exons) simultaneously. It is estimated that most of the disease-causing mutations (about 85%) are located within the exons. This lack of bias allows to also identify disease causing mutations in unexpected genes that would be missed by targeted approaches.

CentoXome®, CENTOGENE’s whole exome sequencing service, offers an accurate and cost-effective one-step solution, with high diagnostic yield.

Remark:
CentoXome® should NOT be offered or accepted for healthy index or individuals requesting carrier screening or screening for adult/late-onset disorders.
 
Methodology:
Whole Exome Sequencing (WES)
 
 
 
Test Code:
090-71-3303

Order Name:
WES - CentoXome Trio + CNV **

 
Patient Preparation:
Genetics Counseling
 
Collection Specimen Or Container:
Blood/ K3 EDTA (Lavender Top) 3 mL, 2 tubes per Person (Trio = 3 persons)

Document Require:
Completed Centrogene requesition & consent form 
 
 
Specimen Testing Type:
Whole blood EDTA, minimum volume 3 mL
 
Sub Mission Container:
Original tube
 
Specimen Stabillity:
Specimen Type Temperature Time
Whole blood EDTA Refrigerated, 2oC to 8oC 14 days
Dried blood 10 spots in special collection kit * Ambient years
* Optional, Nurse can request the special collection kit from Lab 4th Floor, Tel. 14160-2​
** Sending to Centogene, Germany
 
 
 
 
Test Code:
090-71-3303

Order Name:
WES - CentoXome Trio + CNV **

 
Method detail:
Whole Exome Sequencing (WES)
 
Schedule:
N/A **Sent out to Centogene, Germany
 
Turnaround Time:
Received specimen to reported within 2 months (30+ business days)
 
Performing Location:
Centogene, Germany
Referral Lab Services, Laboratory Department 14160-2
 
 
 
Test Code:
090-71-3303

Order Name:
WES - CentoXome Trio + CNV **

 
 
Clinical Information:

For many patients the combination of symptoms does not allow suspecting specific genetic causes with a sufficiently high certainty. It is unclear which genes to look at.

Therefore, WES may be an affordable first test when the clinical spectrum is diverse and diagnostic answers are likely to be obtained only through sequencing the complete coding region, i.e. the whole exome. WES is also a good follow-on approach after more targeted approaches have been tried already and no causative variant was identified.

We particularly recommend WES for patients:

  • With clinical or genetic heterogeneity Examples: Epilepsy, epileptic encephalopathies, muscular dystrophies/muscular disorders, ataxia, neuropathies, cardiomyopathies, skeletal dysplasias, immunodeficiency, deafness, blindness
  • With atypical clinical presentations or phenotypes Example: A patient presenting with intracranial aneurysm (due to PKD1 gene - polycystic kidney disease)
  • With “blended” clinical presentations and clinical suspicion of dual diagnosis Examples: Intellectual disability and severe immunodeficiency
  • With clearly genetic disease, but previous genetic testing having been negative. Example: A patient with autosomal dominant spastic paraplegia and with a negative result for the gene panel
  • Who need a cost-conscious alternative to whole genome sequencing
 
Reference Value:
An interpretive report will be provided.
 
Clinical Reference:
www.centogene.com (Retrieved: 31 Jul 2020)