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ข้อมูลทั่วไป Specimen
ข้อมูลสิ่งส่งตรวจ Performance
ข้อมูลการทดสอบ Clinical & Interpretation
ข้อมูลทางคลินิก

Test Code (รหัสการทดสอบ):

090-71-3305

Order Name (ชื่อการทดสอบ):

WES - CentoXome Trio (Fast track) **

Specimen / Container (สิ่งส่งตรวจ/ภาชนะ):

Blood/ K3 EDTA (Lavender Top) 3 mL, 2 tubes per Person (Trio = 3 persons)

Document Require:
Completed Centrogene requesition & consent form

Turnaround Time (ระยะเวลารอผล):

Received specimen to reported within 1 months (20+ business days)

Useful For (ประโยชน์การทดสอบ):

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 (วิธีการทดสอบ):

Whole Exome Sequencing (WES) + CVS + Mitochondrial genome

Test Code (รหัสการทดสอบ):

090-71-3305

Order Name (ชื่อการทดสอบ):

WES - CentoXome Trio (Fast track) **

Patient Preparation (การเตรียมตัวผู้ป่วย):

Genetics Counseling

Collection Specimen Or Container (สิ่งส่งตรวจ/ภาชนะ):

Blood/ K3 EDTA (Lavender Top) 3 mL, 2 tubes per Person (Trio = 3 persons)

Document Require:
Completed Centrogene requesition & consent form

Specimen Testing Type (สิ่งส่งตรวจที่ใช้ในการทดสอบ):

Whole blood EDTA, minimum volume 3 mL

Sub Mission Container (ภาชนะส่งตรวจ):

Original tube

Specimen Stabillity (ความคงตัวของสิ่งส่งตรวจ):

Specimen Type	Temperature	Time
Whole blood EDTA	Refrigerated, 2^oC to 8^oC	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 (รหัสการทดสอบ):

090-71-3305

Order Name (ชื่อการทดสอบ):

WES - CentoXome Trio (Fast track) **

Method detail (วิธีการทดสอบ):

Whole Exome Sequencing (WES)

Schedule (ตารางการทดสอบ):

N/A **Sent out to Centogene, Germany

Turnaround Time (ระยะเวลารอผล):

Received specimen to reported within 1 months (20+ business days)

Performing Location (หน่วยงานที่ทำการทดสอบ):

Centogene, Germany
Referral Lab Services, Laboratory Department 14160-2

Test Code (รหัสการทดสอบ):

090-71-3305

Order Name (ชื่อการทดสอบ):

WES - CentoXome Trio (Fast track) **

Clinical Information (ข้อมูลทางคลินิก):

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 (ค่าอ้างอิง):

An interpretive report will be provided.

Clinical Reference (เอกสารอ้างอิง):