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Test Information

Cytogenetics and
Molecular Genetics

H > Test Information > Test Specialty > Cytogenetics and Molecular Genetics

Experts in Cytogenetics and Molecular Genetics

contribute to the advancement of medical genomics by dedicating themselves to the research and development, as well as provide the accurate and qualified clinical test results in a timely manner by using the most advanced technology, such as automated sequencers, pyrosequencers, Luminex technology, microarray and next generation sequencing analysis (NGS), etc. We provide accurate and rapid results in an isolated area equipped with cutting edge facilities (double doors, air showers, isolated exhaust system) in order to prevent contamination.

Molecular Genetics

DNA Image

Next Generation sequencing (NGS), PCR, real-time
PCR, multiplex PCR, QF-PCR, direct sequencing,
pyrosequencing, fluorescent fragment length analysis
(gene scan), microarray, MLPA (multiplex ligation
-dependent probe amplification), FISH, etc.

Cancer-related genetic tests
Tumor panel test

AKT1, EGFR, GNAS, NRAS, STK11, ALK, ERBB2, KIT, PDGFRA, TP53,
APC, FBXW7, KRAS, PIK3CA, BRAF, FGFR2, MAP2K1, PTEN, CDH1, FOXL2,
MET, SMAD4, CTNNB1, GNAQ, MSH6, SRC

AML panel test

TET2, DNMT3A, IDH1, IDH2, NPM1, FLT3, CEBPA, ASXL1, BRAF, CBL, KIT, KRAS, NRAS, PTPN11, RUNX1, TP53, WT1, SETD2, JAK2

IGH, TCR rearrangement (fragment analysis, NGS)
Solid tumor

EGFR, K-ras, N-ras, BRAF, MSI, HER2, ALK, etc.

Hematologic malignancy

AML1/ETO, BCR/ABL1, CBFB, PML/RARA, JAK2 mutations, ALK, imatinib resistance mutations, etc.
Panels tests for ALL, MDS, MPN, lymphoma and multiple myeloma

Bone marrow transplantation monitoring (Short tandem repeat)
Many more
Hereditary disease
Hereditary cancer screening test (by NGS)

Hereditary breast and ovarian cancer syndrome (BRCA1, BRCA2, TP53)
Hereditary colon cancer (APC, MLH1, MSH2, MSH6)
Hereditary gastric cancer (CDH1)
Hereditary endocrine cancer (RET)

Wilson disease
Thalassemia
Gilbert syndrome
Many more
Diagnostic exome sequencing test (DES test)

Covers up to 62,000 exons of 4,813 genes
Spinocerebellar ataxia
Fragile X
GJB2: congenital hearing loss
Myotonic dystrophy type I

CADASIL

cerebral autosomal dominant arteriopathy
with subcortical infarcts and
leukoencephalopathy

Prenatal diagnosis
Non-invasive prenatal testing (NIPT)

under development

Carrier Test for Autosomal Recessive Diseases

Wilson disease
Phenylketonuria
Congenital adrenal hyperplasia
Congenital hypothyroidism
Glycogen storage disease type Ia, etc.

Down syndrome
Edward syndrome
Patau syndrome
Turner syndrome
Klinefelter syndrome
Many more
Cytogenetics
Chromosomal Microarray

Developmental delay, intellectual disability, autism, multiple congenital anomaly, hematologic diseases, solid tumors, prenatal diagnosis, CNV (copy number variation) study, etc.

Chromosomal analysis (high-resolution banded karyotype, FISH)

Peripheral blood, bone marrow, amniotic fluid, chorionic villi, fibroblast

Infectious diseases
Bacteria/viral pneumonia
Mycobacterium tuberculosis
CMV, EBV, BKV, JCV, various other viruses
HBV, HCV, HIV quantification
Anti-HBV drug resistance, Anti-TB drug resistance
Malaria
TORCH (toxoplasma, rubella, chlamydia, HSV)
STD (sexually-transmitted disease)
HPV genotyping, HCV genotyping
Bacterial/viral enteritis
Bacterial/viral meningitis
Many more
Pharmacogenetic tests
Pharmacogenomic screening test

ABCB1, CYP1A2, CYP3A4, CYP3A5, CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP2E1, NAT2, SLCO1B1, TPMT, UGT1A1, VKORC1

CYP2C9, CYP2C19, VKORC1, UGT1A1, TPMT, etc.
Histocompatibility tests
HLA-B27, HLA-B51, HLA typing
(low, high resolution)
Forensic tests
Paternity testing
FISH
Microdeletion syndrome

Williams syndrome
Smith-Magenis syndrome
Cri-du-chat syndrome
Di-George syndrome
Prader-Willi/Angelman syndrome

Research/Investigational Test
SNP genotyping
Chromosomal Microarray
Next Generation Sequencing
(Whole genome, exome, transcriptome, etc.)
Bioinformatics

Whole genome resequencing, exome & target sequencing, transcriptomer sequencing,
transcriptome de novo sequencing, Chip sequencing, MBD sequencing, snRNA sequencing,
metagenome 16s rRNA sequencing, metagenome sequencing, de novo sequencing, etc.