Human Genetic Laboratory

International standard laboratory for genetic testing in multi-medical disciplines including precision medicine in cancers, hemato-oncology, reproductive genetics, rare diseases, and forensic genetics

CYTOGENETICS

Chromosomal alterations are involved in the pathogenesis of several diseases such as classical trisomy 21 (down syndrome) and majority of chronic myeloid leukemia (CML). We performed standard karyotyping for the diagnosis of several genetic diseases and leukemia for almost 50 years. Our Lab are continuing improve as we are accredited by ISO15189 and participated in the College of American Pathologist (CAP) proficiency program. There are nearly 3,000 bone marrow samples requested for karyotyping in 2018. Our current research is focusing on the dosage respond of radioactive to chromosomal structural changes (cytogenetic biodosimetry) and the measurement of chromosome damage in Fanconi anemia. Chromosomal alterations are involved in the pathogenesis of several diseases such as classical trisomy 21 (down syndrome) and majority of chronic myeloid leukemia (CML).

 

A Karyotype showing Philadelphia chromosome positive in a CML patient

CYTOGENOMICS

We perform FISH for many applications aiming to detect know cryptic chromosomal aberrations and gain/loss of gene segments involving in several diseases. Those are including numerical abnormalities of chromosome 21, 18, and 13 in both prenatal and postnatal genetic test. Additionally, we use FISH for the detection of recurrent chromosomal translocations in blood cancer such as t(9;22), t(8;21), t(15;17), MLL and IgH rearrangements. In breast cancer, we detect HER2/neu amplification using FISH. We also provide FISH for the detection of common genetic alterations in multiple myeloma which are very important for risk-assessment. Similar to several tests available in the lab, most of FISH assays are accredited by ISO15189 and participated in CAP for proficiency testing. Recently, we success to establish chromosomal microarray to simultaneously analyse gain/loss of chromosome in several genetic diseases.

 

MOLECULAR PATHOLOGY

We develop variety molecular genetic tests which high specificity and sensitivity for the detection of common leukemia association transcription factors (LATFs) and diving mutations. Those are including translocations involving leukemia such as BCR-ABL1, PML-RARa, AML1-ETO, E2A-PBX1, TEL-AML1 and somatic mutations such as FLT3, NPM1, CEBPA, JAK2 V617F, CARL, and MLL rearrangement. Our lab currently success to perform comprehensive genetic analysis for the management of chronic myeloid leukemia.

We recently establish high performance PCR-based technologies including Bacs-on-Beads (BoBs) and QF-PCR for routine analysis of common chromosomal aneuploidies such as down syndrome and turner syndrome. Moreover, our lab is a reference laboratory in Thailand to service for DNA fingerprinting which has broadly applications such as in paternity and maternity test, kinship analysis, mitochondrial DNA analysis and forensic casework (all tests are accredited by ISO15189 and ISO17025, and participated in CAP for proficiency program).

PCR for JAK2 V617F in classical MPNs

 

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