bih.button.backtotop.text
BROWSE BY TEST NAME
%
1
2
3
5
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
Clear
 
Test Code:
090-71-3201-01

Order Name:
Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Mutation Analysis **

 
Useful For:
- ใช้ตัดสินหรือประกอบการวินิจฉัยทางคลินิก (confirmatory diagnostic testing) ในผู้ป่วยโรคมะเร็งลำไส้ใหญ่ชนิดที่ถ่ายทอดทางพันธุกรรม (Lynch syndrome หรือชื่อเดิม HNPCC)
- ใช้ทำนายโรคก่อนจะมีอาการ (pre-symptomatic testing) ในสมาชิกครอบครัวของผู้ป่วย Lynch syndrome ที่ทราบชนิดการกลายพันธุ์แล้ว
 
 
Methodology:
Polymerase chain reaction (PCR) ตามด้วย direct DNA sequencing
 
 
 
Test Code:
090-71-3201-01

Order Name:
Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Mutation Analysis **

 
Patient Preparation:
N/A
 
Collection Specimen Or Container:
Blood/ K3 EDTA (Lavender Top) 3 mL, 4 tubes

Document require:
Siriraj (ใบขอตรวจทางห้องปฏิบัติการอณูพันธุศาสตร) - กรอกประวัติครอบครัวคนไข้, Pedigree
 
Specimen Testing Type:
Whole blood EDTA, minimum volume 12 mL
 
Sub Mission Container:
Original tube
 
 
 
Test Code:
090-71-3201-01

Order Name:
Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Mutation Analysis **

 
Method detail:
Polymerase chain reaction (PCR) ตามด้วย direct DNA sequencing
 
Schedule:
N/A **Sent Out to Siriraj
 
Turnaround Time:
Received specimen to reported within 6 months to 1 year
(Exception for official holidays)
 
Performing Location:
Siriraj
Referral Lab Services, Laboratory Department 14160-2
 
 
 
Test Code:
090-71-3201-01

Order Name:
Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Mutation Analysis **

 
 
Clinical Information:
Lynch syndrome is predominantly characterized by significantly increased risks for colorectal and endometrial cancer. The lifetime risk for colorectal cancer is highly variable and dependent on the gene involved. The risk for colorectal cancer associated MLH1 and MSH2 mutations (approximately 50%-80%) is generally higher than the risks associated with mutations in the other Lynch syndrome-related genes. The lifetime risk for endometrial cancer (approximately 25%-60%) is also highly variable. Other malignancies within the tumor spectrum include gastric cancer, ovarian cancer, hepatobiliary and urinary tract carcinomas, and small bowel cancer. The lifetime risks for these cancers are less than 15%. Of the 4 mismatch repair genes, mutations within the PMS2 gene confer the lowest risk for any of the tumors within the Lynch syndrome spectrum.