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Overview
ข้อมูลทั่วไป Specimen
ข้อมูลสิ่งส่งตรวจ Performance
ข้อมูลการทดสอบ Clinical & Interpretation
ข้อมูลทางคลินิก

Test Code (รหัสการทดสอบ):

090-71-5521

Order Name (ชื่อการทดสอบ):

INVITAE Carrier Screen, Female **

Specimen / Container (สิ่งส่งตรวจ/ภาชนะ):

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

Document Required:
1. Completed Consent Form LAB-08170-Rev03-EN-Consent-for-Genomic-Medicine-Testing.pdf
2. Completed Requisition Form LAB-REQ02-Rev01-0616.pdf

Turnaround Time (ระยะเวลารอผล):

30 days

Useful For (ประโยชน์การทดสอบ):

Help make healthy pregnancies possible with carrier screening.

Carrier screening is recommended for all patients who are pregnant or considering pregnancy. Carrier screening identifies patients who are at increased risk of having a child affected with a genetic disorder, providing actionable information for the next steps of their reproductive journey.

The Invitae Comprehensive Carrier Screen includes up to 301 genes and is appropriate for those of all ethnicities who want an expanded assessment of their risk of having an affected child.

Methodology (วิธีการทดสอบ):

Next-generation sequencing (NGS)

AliasesName (ชื่อเรียกอื่นๆ) :

Invitae Comprehensive Carrier Screen, Female

Test Code (รหัสการทดสอบ):

090-71-5521

Order Name (ชื่อการทดสอบ):

INVITAE Carrier Screen, Female **

Patient Preparation (การเตรียมตัวผู้ป่วย):

Genetics Counseling

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 specimen collection kit from Lab 4th Floor, Tel. 14160-2
** Sending to USA

Test Code (รหัสการทดสอบ):

090-71-5521

Order Name (ชื่อการทดสอบ):

INVITAE Carrier Screen, Female **

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):

090-71-5521

Order Name (ชื่อการทดสอบ):

INVITAE Carrier Screen, Female **

Clinical Information (ข้อมูลทางคลินิก):

The Invitae Comprehensive Carrier Screen includes up to 301 genes and is appropriate for those of all ethnicities who want an expanded assessment of their risk of having an affected child.

This panel includes:

all disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG)
an extended list of disorders recommended by national Jewish societies
disorders that may have a severe presentation
a selection of disorders found on the newborn screen
several X-linked disorders, including Fragile X syndrome

Please find example report from this link below
12-INVITAE-Carrier-Screen,-Female.pdf

Reference Value (ค่าอ้างอิง):

An interpretive report will be provided.

Interpretation (การแปลผล):

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

Clinical Reference (เอกสารอ้างอิง):