03
GenomeCheck G
What is the GenomeCheck G test?
Everyone has individual genomes (the genetic information
of our body) in each cell’s DNA, and their numerical and
structural abnormalities can cause various congenital deformities or
chromosomal abnormalities. GenomeCheck G test
checks for chromosomal abnormalities in newborns and
children using Cytogenetic Microarray (CMA),
a genomic (chromosome) analysis technology, and through accurate
chromosomal (genomic) tests, it is possible to
identify genetic disorders and to determine the response
time for treatment and rehabilitation management.
A GenomeCheck
G test
is required for
- Physical developmental disorder
- Sexual developmental disorder
- Mental retardation / Intelligence disorder
- Deformities in specific parts of the body
(cardiovascular system/nervous system/face/limbs, etc.)
- Autism
- Family history of chromosomal abnormalities
- Skin diseases such as ichthyosis
- If other syndromes of unknown cause are suspected
GenomeCheck G test can quickly and accurately identify more than 400 chromosomal abnormalities that
cause learning disabilities, stunted growth, and mental retardation.
Chromosomal abnormalities can occur naturally regardless of genetic causes, so even if there is no family
history or
the first child is normal, testing a new child is necessary.
Although it is difficult to cure chromosomal abnormalities fundamentally, it is possible to prevent or
improve the abnormal symptoms
caused by the disease if appropriate treatment and management are carried out after early diagnosis.
As the mother's age increases, the birth rate of congenitally deformed children increases.
Limitations and references of the test
- This is a screening test for genomic abnormalities, and additional tests are essential to confirm the
diagnosis.
- Since this test is a screening test and not a confirmatory test, there is a slight possibility of
false-positive / false-negative results, and other types of mutations that are not analyzed by
this test (balanced translocation, inversion, point mutation, mosaicism, etc.) can be detected by
additional tests.
- The clinical significance of the results of this test has not been established, and
there is still insufficient objective validity that the resulting health-related actions are useful.
- This test is performed at the request of a medical institution.
03
GenomeCheck G
What is the GenomeCheck G test?
Everyone has individual genomes (the genetic
information of our body) in each cell’s DNA, and their numerical and structural abnormalities can cause
various congenital deformities or chromosomal abnormalities. GenomeCheck G test checks for
chromosomal abnormalities in newborns and children using Cytogenetic Microarray (CMA), a genomic
(chromosome) analysis technology, and through accurate chromosomal (genomic) tests, it is possible to
identify genetic disorders and to determine the response time for treatment and rehabilitation management.
A GenomeCheck G test
is required for
- Physical developmental disorder
- Sexual developmental disorder
- Mental retardation/Intelligence disorder
- Deformities in specific parts of the body
(cardiovascular system/nervous system/face/limbs, etc.)
- Autism
- Family history of chromosomal abnormalities
- Skin diseases such as ichthyosis
- If other syndromes of unknown cause are suspected
GenomeCheck G test can quickly and accurately identify more than 400 chromosomal abnormalities that cause
learning disabilities, stunted growth, and
mental retardation.
Chromosomal abnormalities can occur naturally regardless of genetic causes, so even if there is no family
history or the first child is normal, testing a new child is necessary.
Although it is difficult to cure chromosomal
abnormalities fundamentally, it is possible to prevent or improve the abnormal symptoms caused by the disease
if appropriate treatment and management are carried out after early diagnosis.
As the mother's age increases, the birth rate of
congenitally deformed children increases.
Limitations and references
of the test
- GenomeCheck G test can quickly and accurately
identify more than 400 chromosomal abnormalities that cause learning disabilities, stunted growth, and
mental retardation.
- Chromosomal abnormalities can occur naturally regardless of genetic causes, so even if there is no
family history or the first child is normal, testing a new child is necessary.
- Although it is difficult to cure chromosomal abnormalities fundamentally, it is possible to prevent or
improve the abnormal symptoms caused by the disease if
appropriate treatment and management are carried out after early diagnosis.
- As the mother's age increases, the birth rate of
congenitally deformed children increases.
- This test is performed at the request of a medical institution.
04
GenomeCheckG Plus
What is GenomeCheck G Plus?
Using the world's highest level of analysis technology, this test checks
for the presence or absence of more than 1,000 neonatal chromosomal
abnormalities. It is a state-of-the-art genomic analysis test that
integrates microarray analysis technology (analysis of more than 14 million
specific sequencings) and next-generation sequencing technology
(analysis of 3 billion sequencings).Compared to NGS Targeted
Sequencing, which analyzes only small target regions, the analysis
region has been expanded to the entire genome, enabling analysis
of various genetic disorders accounting for more than 1,000
chromosomal abnormalities in newborns and children.
Unlike other tests that analyze genetic disorders, the GenomeCheck G Plus test is characterized
by expanding the analysis to cover all regions of the chromosome using microarray (CMA) and
Next-Generation Sequencing (NGS) to screen for more than 1,000 diseases
Main Diseases Screened for
by GenomeCheck G Plus
Monosomy
1p36 |
9q22.3
Microdeletion
syndrome |
Miller-Dieker
syndrome |
XYYY
syndrome |
Williams
syndrome |
15q26
Overgrowth
syndrome |
Turner
syndrome |
Wolf-Hirschhorn
syndrome |
Dandy-Walker
syndrome |
Patau
syndrome |
Edwards
syndrome |
Thrombocyto
penia-absent radius
syndrome |
Kleefstra
syndrome |
17p12
Deletion syndrome |
XYY
syndrome |
Ectrodactyly
type 1 |
7q11.23
Duplication
syndrome |
15q24
Microdeletion
syndrome |
Phelan McDermid
syndrome |
3q’29
Microdeletion
syndrome |
Rieger
syndrome type 2 |
19p13.12
Microdeletion
syndrome |
1q21.1
Microduplication
syndrome |
DiGeorge
syndrome type 2 |
Alagille
syndrome |
Rieger syndrome
Type 1 |
14q32
Deletion syndrome |
Down
syndrome |
Cri-du-chat
syndrome |
Prader-Willi
syndrome |
Early-onset
Alzheimer's disease
Type 1 |
Cerebral
gigantism |
Klinefelter
syndrome |
7q22
Deletion syndrome |
Rubinstein-Taybi
syndrome Type 1 |
Steroid sulfatase
deficiency |
8p23.1
Deletion syndrome |
16p13.11
Microdeletion
syndrome |
Kallmann
syndrome |
8p23.1
Duplication
syndrome |
2p15-p16.1
Microdeletion
syndrome |
Wilms tumor |
Charcot-Marie-Tooth
disease type 1A |
Joubert's
syndrome |
Potocki-Shaffer
syndrome |
Potocki-Lupski
syndrome |
2q23.1
Microdeletion
syndrome |
Jacobsen's
syndrome |
Cat eye
syndrome |
Rieger
syndrome Type 3 |
Idiopathic
progressive
epilepsy |
DiGeorge
syndrome |
Greig
syndrome |
15q12
Duplication
syndrome |
Angelman
syndrome |
22q11.2
Distal deletion
syndrome |
Glycerol kinase
deficiency |
8q21.11
Microdeletion
syndrome |
16p12.1
Microdeletion
syndrome |
Duchenne
muscular
dystrophy |
Langer-Giedion
syndrome |
16p11.2
Microduplication
syndrome |
16p11.2-p12.2
Microduplication
syndrome |
Xq28 Duplication
syndrome |
Glass
syndrome |
12p13.33
Microdeletion
syndrome |
Renal cyst-diabetes
syndrome |
2q37
Microdeletion
syndrome |
12q14
Microdeletion
syndrome |
Koolen-de Vries
syndrome |
Neurofibromatosis
Type 1 |
Wilson's disease |
ATR-16
syndrome |
Smith-Magenis
syndrome |
More than 900 other diseases |
Chromosomal abnormalities can occur at various locations on chromosomes,
and in fact, genetic disorders may be present throughout all chromosome regions.
Therefore, tests for genetic disorders must analyze the entire chromosome.
A GenomeCheck
G Plus test
is required for
- Those who want to know the genomic information
of newborns and children
- Physical developmental disorder
- Sexual developmental disorder
- Mental retardation / Intelligence disorder
- Deformities in specific parts of the body
(cardiovascular system/nervous system/face/limbs, etc.)
- Autism
- Family history of chromosomal abnormalities
- If other syndromes of unknown cause are suspected
Limitations and references of the test
- This is a screening test for genomic abnormalities, and additional tests are essential to confirm the
diagnosis.
- Since this test is a screening test and not a confirmatory test,
there is a slight possibility of false-positive / false-negative results, and other types of mutations
that are not analyzed
by this test (balanced translocation, inversion, point mutation, mosaicism, etc.) can be detected by
additional tests.
- The clinical significance of the results of this test has not been established,
and there is still insufficient objective validity that the resulting health-related actions are useful.
- This test is performed at the request of a medical institution.
04
GenomeCheck G Plus
What is GenomeCheck G Plus?
Using the world's highest level of analysis technology,
this test checks for the presence or absence of more than 1,000 neonatal chromosomal abnormalities. It is a
state-of-the-art genomic analysis test that integrates microarray analysis technology (analysis of more than
14 million specific sequencings) and next-generation sequencing technology (analysis of 3 billion
sequencings).
Compared to NGS Targeted Sequencing, which analyzes only small target regions, the analysis region has been
expanded to the entire genome, enabling analysis of various genetic disorders accounting for more than 1,000
chromosomal abnormalities in newborns and children.
Unlike other tests that analyze genetic disorders, the GenomeCheck G Plus test is characterized
by expanding the analysis to cover all regions
of the chromosome using microarray (CMA) and Next-Generation Sequencing (NGS) to
screen for more than 1,000 diseases
Main Diseases Screened
for by GenomeCheck G Plus
Chromosomal abnormalities can occur
at various locations on chromosomes, and in
fact, genetic disorders may be present
throughout all chromosome regions.
Therefore, tests for genetic disorders must
analyze the entire chromosome.
A GenomeCheck G Plus
test is required for
- Those who want to know the genomic information of newborns and children
- Physical developmental disorder
- Sexual developmental disorder
- Mental retardation / Intelligence disorder
- Deformities in specific parts of the body (cardiovascular system/nervous system/face/limbs, etc.)
- Autism
- Family history of chromosomal abnormalities If other syndromes of unknown cause are suspected
Limitations and references
of the test
- This is a screening test for genomic abnormalities, and additional tests are essential to confirm the
diagnosis.
- Since this test is a screening test and not a confirmatory test, there is a slight possibility of
false-positive / false-negative results, and other types of mutations that are not analyzed by this test
(balanced translocation, inversion, point mutation, mosaicism, etc.) can be detected by additional tests.
- The clinical significance of the results of this test has not been established, and there is still
insufficient objective validity that the resulting health-related actions are useful.
- This test is performed at the request of a medical institution.
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