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Our mission is to evaluate an individual's DNA to discover a genetic cause for their disease or physical symptoms, provide interpretation of the genetic finding and its association with disease, develop new methods for analyzing genes, and introduce new testing to improve patient care. We offer to test in the disciplines of molecular genetics, cytogenetics, fluorescence in situ hybridization (FISH), maternal serum screening, genomic microarray, and biochemical genetics. We committed to providing high-quality genetic testing, JM’s continuously expands its test menu as new procedures and markers of clinical utility are identified. Medical directors and genetic counselors are available for pre- and post-test consultation and interpretation.
Newborn screening is used just after birth to identify genetic disorders that can be treated early in life. Millions of babies are tested each year in China including the Asian continent. All provinces in China currently test infants for phenylketonuria (a genetic disorder that causes intellectual disability if left untreated) and congenital hypothyroidism (a disorder of the thyroid gland). JM’s genetic diagnosis division plays a crucial role to collaborate with several provincial governments all in China & follows Asian continent for newborn genetic testing.
Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. Diagnostic testing can be performed before birth or at any time during a person's life but is not available for all genes or all genetic conditions. The results of a diagnostic test can influence a person's choices about health care and the management of the disorder.
Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions. If both parents are tested, the test can provide information about a couple's risk of having a child with a genetic condition.
Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder. In some cases, prenatal testing can lessen a couple's uncertainty or help them make decisions about a pregnancy. It cannot identify all possible inherited disorders and birth defects, however.
The Genome Diagnostics Section offers postnatal genetic tests in families suspect of a genetic disease. This includes hereditary disorders caused by structural changes in chromosomes, by methylation defects or by mutations in specific disease genes. A postnatal test can be used either to confirm or reject a clinical diagnosis and can also be used to determine whether a patient is a carrier of a familial mutation. The advanced test methods include a.o. semi-automated fluorescence-based DNA sequencing ('DNA sequencing'), Next Generation Sequencing (NGS), SNP array copy number analysis, Karyotyping, Multiplex Ligation-dependent Probe Amplification (MLPA) and analysis of amplified polymorphic DNA markers.
Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life. These tests can be helpful to people who have a family member with a genetic disorder, but who have no features of the disorder themselves at the time of testing. Predictive testing can identify mutations that increase a person's risk of developing disorders with a genetic basis, such as certain types of cancer. Presymptomatic testing can determine whether a person will develop a genetic disorder, such as hereditary hemochromatosis (an iron overload disorder) before any signs or symptoms appear. The results of predictive and presymptomatic testing can provide information about a person’s risk of developing a specific disorder and help with making decisions about medical care.
A DNA test can be used either to confirm or to reject a clinical diagnosis and can also be used to determine carrier status or can be used within the scope of prenatal diagnosis. In addition to classic Sanger sequencing, state-of-the-art testing methods are used such as SNP array, MLPA and Next Generation Sequencing (NGS). NGS well suited to detect the genetic cause of diseases characterized by a high degree of genetic heterogeneity. The Genome Diagnostics Section can offer NGS for diseases such as epilepsy, cardiac and auto-inflammatory diseases, kidney disorders and for intellectual disabilities. On the "Request form DNA diagnostics," a complete overview of the molecular genetic tests that are offered is provided.