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Overview
ข้อมูลทั่วไป Specimen
ข้อมูลสิ่งส่งตรวจ Performance
ข้อมูลการทดสอบ Clinical & Interpretation
ข้อมูลทางคลินิก

Test Code (รหัสการทดสอบ):

090-71-5525

Order Name (ชื่อการทดสอบ):

INVITAE Cardio screen (Proactive test) **

Specimen / Container (สิ่งส่งตรวจ/ภาชนะ):

Blood/ K3 EDTA (Lavender Top) 6 mL, 1 tube

Document Required:
1. Completed Consent Form LAB-08170-Rev04-EN-Consent-for-Genomic-Medicine-Testing.pdf
2. Completed Requisition Form LAB-REQ02-Rev02-0206_INVITAE-Proactive.pdf

Turnaround Time (ระยะเวลารอผล):

30 days

Useful For (ประโยชน์การทดสอบ):

Determine a healthy adult's predisposition to cardiovascular conditions.

If you checked "No" to all questions, your patient is likely a good candidate for Proactive genetic testing. If you checked "Yes" for any of the boxes above, you may want to consider further evaluation to determine whether Diagnostic testing is more appropriate for your patient.

Do any of the following apply to your patient or their close blood relative* ?

Diagnosis of a potentially hereditary cardiovascular condition such as cardiomyopathy2, arrhythmia3, aortopathy4, familial hypercholesterolemia, pulmonary arterial hypertension, or hereditary hemorrhagic telangiectasia
Early-onset cardiovascular disease:
- ICD/Pacemaker (younger than age 50)
- Heart failure or heart transplant (younger than age 60)
- Early "heart attack", coronary artery disease, or stroke (males younger than age 55; females younger than age 65)
- Aortic aneurysm/dissection (younger than age 50)
Untreated LDL ≥190
Unexplained cardiac arrest(s) or sudden death, or sudden infant death syndrome (SIDS)
Unexplained syncope or syncope with exercise or emotional distress

*Close blood relatives include sibling, half-sibling, parent, child, aunt/uncle, niece/nephew, grandparent, or grandchild

Methodology (วิธีการทดสอบ):

Next-generation sequencing (NGS)

Test List In Profile (การทดสอบใน Profile):

ACTA2 ACTC1 ACTN2 ACVRL1 APOB BAG3 BMPR2 CACNA1C CACNB2 CALM1 CALM2 CALM3
CASQ2 CAV1 CAV3 COL3A1 CRYAB CSRP3 DES DMD DSC2 DSG2 DSP EMD ENG F2 F5 F9
FBN1 FHL1 FLNC GDF2 GLA GPD1L HCN4 JUP KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 LAMP2
LDLR LDLRAP1 LMNA MYBPC3 MYH11 MYH7 MYL2 MYL3 MYLK NKX25 PCSK9 PKP2 PLN
PRKAG2 PRKG1 PROC PROS1 RBM20 RYR2 SCN5A SERPINC1 SGCD SMAD3 SMAD4 TCAP
TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM43 TNNC1 TNNI3 TNNT2 TPM1 VCL

Test Code (รหัสการทดสอบ):

090-71-5525

Order Name (ชื่อการทดสอบ):

INVITAE Cardio screen (Proactive test) **

Patient Preparation (การเตรียมตัวผู้ป่วย):

Genetics Counseling
ไม่ทำการตรวจ Proactive ในผู้ที่อายุต่ำกว่า 18 ปี

Collection Specimen Or Container (สิ่งส่งตรวจ/ภาชนะ):

Specimen Testing Type (สิ่งส่งตรวจที่ใช้ในการทดสอบ):

Blood/ K3 EDTA (Lavender Top) 6 mL, 1 tube

Sub Mission Container (ภาชนะส่งตรวจ):

Whole blood EDTA, minimum volume 6 mL

Rejection Criteria (เกณฑ์ปฏิเสธสิ่งส่งตรวจ):

Hemolyzed or clotted blood
Blood (or saliva) from patients who have had an allogeneic (non-self donor) bone marrow transplant
Blood (or saliva) from patients who have had an allogeneic (non-self donor) stem cell transplant
Blood (or saliva) from patients who had a blood transfusion less than two weeks prior to specimen collection

Specimen Stabillity (ความคงตัวของสิ่งส่งตรวจ):

Specimen Type	Temperature	Time
Whole blood EDTA	Refrigerated, 2^oC to 8^oC	14 days
Saliva (2mL) in special collection kit *	Ambient	30 days

* Optional, Nurse can request the special collection kit from Lab 13th Floor, Tel. 14160-2
** Sending to USA

Test Code (รหัสการทดสอบ):

090-71-5525

Order Name (ชื่อการทดสอบ):

INVITAE Cardio screen (Proactive test) **

Method detail (วิธีการทดสอบ):

Next-generation sequencing (NGS)

Schedule (ตารางการทดสอบ):

N/A **Sent out to INVITAE, USA

Turnaround Time (ระยะเวลารอผล):

30 days

Performing Location (หน่วยงานที่ทำการทดสอบ):

INVITAE, USA
Referral Lab Services, Laboratory Department 14160-2

Test Code (รหัสการทดสอบ):

090-71-5525

Order Name (ชื่อการทดสอบ):

INVITAE Cardio screen (Proactive test) **

Clinical Information (ข้อมูลทางคลินิก):

The Invitae Cardio Screen analyzes more than 75 genes related to inherited cardiovascular conditions that, if detected early, may have effective medical interventions and preventive measures. Conditions tested include aortopathies, arrhythmias, cardiomyopathies, thrombophilia, and genetic forms of high blood pressure and high cholesterol.

All genes included in the Invitae Cardio Screen can also be found in the Invitae Genetic Health Screen, which includes cardiovascular and cancer genes, as well as several additional medically actionable conditions.

Please find example report from this link below
Cardio-screen-positive_Ex-Report.pdf

Reference Value (ค่าอ้างอิง):

An interpretive report will be provided.

Interpretation (การแปลผล):

Report integrate relevant guidelines to help develop a personalized screening and prevention plan for patients.

Clinical Reference (เอกสารอ้างอิง):