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Molecular Clinical Pathology

BCR-ABL Mutation

Item Code

7518

Test name

BCR-ABL Mutation

Description

The clinical use of specific BCR-ABL inhibitors has resulted in a significantly improved prognosis, response rate, overall survival, and patient outcome in CML patients compared to previous therapeutic regimens. However, the complete eradication of CML in patients receiving Gleevec has been limited by the emergence of resistance mostly due to mutations in the ABL kinase domain at position 315 (T315I). The second-generation BCR-ABL TKIs nilotinib (Tasigna) and dasatinib (Sprycel), showed significant activity in clinical trial in patients intolerant or resistant to Gleevec therapy, except in those patients with the T315I BCR-ABL mutation.

Specimen Requirements

Minimal 6 mL peripheral blood in EDTA. Ship at cool temperature (Do not allow cool/ refrigerated pack to directly contact the sample)

Method(s)

PCR and direct PCR sequencing

Causes for rejection

Specimen clotted; specimen stored or shipped at incorrect temperature; specimen in incorrect anticoagulant; insufficient specimen volume.

Test Result

T315I mutation detected, no mutation detected or inconclusive.

Turnaround Time

7 days

BCR-ABL Quantitative

Item Code

7558

Test Name

BCR-ABL Quantitative

Description

The primary clinical utilities for BCR-ABL quantitative testing is monitoring of patients for molecular evidence of minimal residual disease (MRD) or molecular remission in response to tyrosine kinase inhibitor(TKI).

Specimen Requirements

Minimal 6 mL peripheral blood in EDTA. Ship at cool temperature (Do not allow cool/ refrigerated pack to directly contact the sample)

Method(s)

qRT-PCR using Cepheid GeneXpert Monitor BCR-ABL IVD assay.

Causes for rejection

Specimen clotted; specimen stored or shipped at incorrect temperature; specimen in incorrect anticoagulant; insufficient specimen volume.

Test Result

Transcript detected with international scale ratio (%IS) or No transcript detected with Limit of Detection (%LoD).

Turnaround Time

7 days

BCR-ABL Qualitative

Item Code

7517

Test Name 

BCR-ABL Qualitative

Description

Presence of a BCR-ABL fusion gene is necessary for the pathogenesis of Chronic Myloid Leukemia (CML). This assay detects the BCR-ABL fusion gene transcripts (such as major e14a2 (b3a2), e13a2 (b2a2), micro e1a2 and minor e19a2 (c3a2)) in patients with a Philadelphia chromosome (t[(9:22)(q34;q11)]) positive leukemia. The translocation is found in ±95% of CML patients.

Specimen Requirements

Minimal 6 mL peripheral blood in EDTA. Ship at cool temperature (Do not allow cool/ refrigerated pack to directly contact the sample)

Method(s)

Multiplex-primers PCR

Causes for rejection

Specimen clotted; specimen stored or shipped at incorrect temperature; specimen in incorrect anticoagulant; insufficient specimen volume.

Test Result

Specific translocation detected, no translocation detected or inconclusive.

Turnaround Time

7 days

BRCA 1-2 Mutation

Item Code

7132

Test name

BRCA1/2 Genotyping

Description

The BRCA gene test is a blood test that uses DNA analysis to identify harmful changes (mutations) in either one of the two breast cancer susceptibility genes: BRCA1 and BRCA2. Women who have inherited mutations in these genes are at an increased risk of developing breast cancer and ovarian cancer compared with the general population. The BRCA gene test is offered only to people who are likely to have an inherited mutation based on personal or family history, or who have a specific type of breast cancer. The BRCA gene test isn't routinely performed on women at average risk of breast and ovarian cancers.

Specimen requirements

Minimal 6 mL peripheral blood in EDTA. Ship at cool temperature (Do not allow cool/ refrigerated pack to directly contact the sample)

Method(s)

Next-Gen Sequencing operated by Macrogen Inc. (Korea)

Causes for rejection

Specimen clotted; specimen stored or shipped at incorrect temperature; specimen in incorrect anticoagulant; insufficient specimen volume.

Test Result

Specific mutation detected or no mutation detected.

Turnaround Time

-

HCV Genotype-PCR

Test Name :

HCV Genotype-PCR

Clinical Significance :

Determination of genotype of hepatitis C virus, estimation of INF treatment effect by type, estimation of prognosis and determination of therapeutic effect

JAK2 Mutation

Item Code

7746

Test name

JAK2 Mutation

Description

This test is useful for evalutation of patients with a high index of clinical suspicion for a Philadelphia chromosome negative (BCR-ABL negative) myeloproliferativeneoplasm (polycythemia vera, essential thrombocythemia, idiopathic mylofibrosis). 

Specimen Requirements

Minimal 6 mL peripheral blood in EDTA. Ship at cool temperature (Do not allow cool/ refrigerated pack to directly contact the sample)

Method(s)

PCR and direct PCR sequencing

Causes for rejection

Specimen clotted; specimen stored or shipped at incorrect temperature; specimen in incorrect anticoagulant; insufficient specimen volume.

Test Result

V617F mutation detected, no mutation detected or inconclusive

Turnaround Time

7 days