Who, When, and Why Do You Need Clinical Genetics Service?

Who, When, and Why Do You Need Clinical Genetics Service?

Highlights:

  • Gain insights into your genetic health for personalized care and treatment options through our Clinical Genetics Service.
  • Expert team for accurate diagnoses and compassionate guidance throughout your genetic journey.
  • Comprehensive care for chromosomal abnormalities, single gene disorders, and more at our Clinical Genetics Service.

Genetic testing isn't driven by mere curiosity; it holds the potential to provide deep insights into your genetic composition. These insights encompass potential genetic conditions, risks, and predispositions. Armed with this knowledge, you can take proactive steps towards your healthcare, enabling personalized treatments and tailored management plans. Join us as we shed light on why unraveling your genetic blueprint can make a significant difference in your life.
 

Genetic Insights for Personalized Healthcare:

Our Clinical Genetics Service is suitable for individuals of all ages, from newborn to adult, who may have a suspected or confirmed genetic condition. Reasons you may benefit from our service include:

  1. Diagnosing a genetic condition: If you or your loved one presents with signs, symptoms, or features that suggest a genetic condition, our Clinical Genetics Service can help provide a definitive diagnosis through a thorough evaluation and genetic testing.
  2. Confirming and explaining a genetic condition: If you have already received a preliminary diagnosis and need further confirmation or clarification about your genetic condition, our expert clinical geneticist and genetic counselors can assist you by thoroughly reviewing your and your family’s medical histories and conducting appropriate genetic testing.
  3. Genetic testing using various genetic technologies: Our Clinical Genetics Service offers a wide range of genetic testing options tailored to your specific needs. These testing options include whole genome sequencing, whole exome sequencing, transcriptome (RNA) sequencing, chromosomal microarray, next-generation sequencing-based panels, karyotype analysis, and a variety of single gene analysis tests. These advanced technologies allow for an accurate and comprehensive assessment of your genetic makeup.

The Examples of Conditions Seen in Our Clinical Genetics Service:

  1. Chromosomal abnormalities: We specialize in diagnosing and managing conditions caused by chromosomal abnormalities that can result in birth defects, intellectual disabilities and reproductive problems.
  2. Single gene disorders: We have expertise in diagnosing and providing personalized management plans for a variety of single gene disorders. Some examples include hemoglobinopathy, cystic fibrosis, muscular dystrophy, Huntington's disease, spinocerebellar ataxia, spinal muscular atrophy, hereditary neuropathy and inherited metabolic disorders.
  3. Familial cancer and pre-cancer syndromes: Our team is experienced in evaluating and counseling individuals and families with a history of inherited cancer syndromes, such as inherited breast or colorectal cancer (colon cancer), multiple endocrine neoplasia, neurofibromatosis, tuberous sclerosis and von Hippel-Lindau syndrome.
  4. Birth defects with genetic components: We provide comprehensive assessments for individuals with birth defects that have a genetic component, such as neural tube defects and cleft lip and palate.
  5. Childhood neurodevelopmental conditions: If your child has a neurodevelopmental condition with an unknown cause, such as developmental delay, intellectual disability, autism or epilepsy, our Clinical Genetics Service can help determine if there is a genetic basis for the condition.
  6. Rare conditions with unidentified causes: Our team is well-equipped to assist in the diagnosis and management of rare conditions where the underlying cause is not yet known.
  7. Common diseases with strong family history: We offer consultations and guidance for individuals with common diseases, such as coronary artery disease, diabetes, and stroke, who have a strong family history of these conditions.
  8. Pharmacogenomics: Our services also encompass pharmacogenomics, which involves analyzing genetic factors that impact drug prescribing. This allows us to tailor medications to an individual's genetic profile, maximizing their effectiveness and minimizing potential adverse effects.

Step-by-Step Guide to Access Our Services:

  1. Referral: You can access our Clinical Genetics Service through a referral from your primary care physician, a specialist or other healthcare professional, or as a self-referral.
  2. Initial consultation: Once a referral is received, you will schedule an initial consultation with our clinical geneticist, who will carefully review your medical and family history to assess your genetic risk and determine appropriate testing options.
  3. Genetic testing: If genetic testing is recommended, our team will guide you through the process, including sample collection (such as blood or saliva), laboratory testing and results interpretation.
  4. Genetic counseling: Following testing, our genetic professionals will meet with you to discuss and explain the results, their implications and any management or treatment options available. We also provide counseling for reproductive options, including prenatal diagnosis and preimplantation genetic diagnosis (PGD), to assist couples who have a higher risk of transmitting a genetic condition to their children.
  5. Family management plans: We understand the importance of managing a genetic condition within the family. Our team will work with you to develop personalized family management plans, including recommendations for clinical surveillance of at-risk asymptomatic family members.

Our Expert Team:

Our Clinical Genetics Service is delivered by a highly experienced clinical geneticist and a skilled genetic counselor, both of whom have international recognition for their expertise in the field of clinical genetics. They are dedicated to providing the highest standard of care, ensuring you receive accurate diagnoses, valuable genetic insights, and compassionate guidance throughout your genetic journey.

At Samitivej Genomics Center's Clinical Genetics Service, we are committed to improving the lives of individuals and families affected by genetic conditions. Our comprehensive evaluations, genetic testing options, counseling services and personalized management plans are designed to empower you with the knowledge and tools needed to make informed decisions about your healthcare. Contact us today to learn more about how we can assist you.

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