Tests Services
Empowering Lives with Carrier Testing, Hereditary Analysis, and Tailored Genetic Tests.
Hereditary Genetic Disorders
Hereditary disorders are medical conditions that are inherited from one's parents, resulting from genetic changes or mutations that can impact various aspects of health and well-being.
Who should take this test?
Individuals with a family history of genetic disorders, couples planning for pregnancy, or those seeking to understand their inherited risk factors for certain conditions.
Why do you need to take this test?
The test can provide valuable insights into your personal risk factors for inherited conditions, helping you make informed decisions about your health, medical management, and family planning.
What should you expect in the report?
In the genetic test report, you can expect to find information about specific genetic variants identified, their associated risks or implications, and recommendations for medical management, screenings, or preventive measures based on the results.
Rare Genetic Disorders
A rare genetic disease is any disease that affects a small percentage of the population, defined as one that affects fewer than 200,000 people across a broad range of possible disorders
What causes rare genetic disorders?
Rare genetic disorders are caused by a variety of factors, including spontaneous gene mutations, inherited genetic mutations from parents, chromosomal abnormalities, and environmental influences. These disorders are often complex and require specialized diagnosis and management.
Who should get tested for rare genetic disorders?
Individuals with unexplained or atypical symptoms, a family history of rare genetic disorders, or those seeking to understand their genetic risk factors for better medical management and family planning should consider testing.
How can one live with a rare genetic disorder?
Manage rare genetic disorders by seeking medical expertise, building a support network, educating yourself, following a care plan, prioritizing self-care, staying proactive, and addressing emotional well-being.
Carrier Screening
Carrier screening is a genetic test that identifies individuals who carry a gene mutation associated with inherited disorders. It helps individuals understand their risk of passing on genetic conditions to their children.
What is tested in carrier screening?
Specific genes associated with inherited disorders are tested to identify whether an individual carries a mutation for that particular condition. The tests focus on genes linked to common genetic conditions, such as cystic fibrosis, sickle cell anemia, and spinal muscular atrophy, among others. The goal is to identify carriers whether the female partner or male partner, may have a risk of passing on the condition to their children.
Who should take carrier screening?
Individuals or couples who are planning to have children or are in the early stages of pregnancy. It is especially beneficial for those with a family history of genetic disorders or belonging to populations with a higher prevalence of certain conditions. Discussing carrier screening with a healthcare provider can help determine if it is appropriate based on personal and family medical history.
What measures are suggested if one is a carrier?
If identified as a carrier through genetic screening, options include partner testing, prenatal testing, assisted reproductive techniques like IVF with PGT, and seeking genetic counseling for informed decision-making and support.
Consanguineous Marriage
Genetic testing plays a crucial role in consanguineous marriages (between close relatives) to assess the risk of inherited genetic disorders. The chances of having a child with a genetic disorder are higher in a consangeniuos marriage.
How is a disease passed in consanguineous marriage?
In a consanguineous marriage, each partner belonging to the same family may carry a single copy of the disease gene, indicating that they are carriers but do not have the disease. When two partners from a single family, each having a single disease gene copy and pass the genes on to their child, the two genes combine to cause disease in the child.
Who should take this test?
Couples who are closely related (e.g., first cousins) should take this test to understand their specific risk of passing on inherited genetic disorders to their children and make informed decisions about family planning.
How can a genetic test help?
Genetic testing in consanguineous marriages helps identify carrier status, assess the risk of passing on genetic disorders, make informed family planning decisions, initiate early detection and management, and receive guidance from genetic counselors for comprehensive support and care
What to Choose?
Whole Genome Sequencing
Harness the Power of Whole Genome Sequencing (WGS) when your patient:
Exhibits a complex phenotype with numerous potential diagnoses requiring a comprehensive assessment.
Presents a genetically heterogeneous disorder where variations in multiple genes may contribute.
Requires a comprehensive analysis beyond the scope of gene-specific testing.
Previous genetic testing has yielded inconclusive results.
WGS can be performed on the index patient alone or expanded to include family members, facilitating enhanced variant analysis and interpretation.
Whole Exome Sequencing
Unlock the potential of Whole Exome Sequencing (WES) when your patient:
Presents a complex phenotype with multiple potential diagnoses.
Has a genetically heterogeneous disorder or limited gene-specific testing options.
Previous genetic testing hasn't provided a conclusive diagnosis.
With detailed clinical information, WES provides comprehensive insights. Perform WES on the index patient alone or with family members to enhance variant filtering and interpretation. Experience precise genetic analysis for personalized care.
Targeted Disease Panel
Opt for a Panel Test if your patient presents with a known or suspected clinical diagnosis and the causative genes are well-defined and covered by our panels.
Our panels offer customizable gene content to ensure targeted analysis.
For instance, if your patient has conditions like hypertrophic cardiomyopathy, epilepsy, or retinal dystrophy, our panels provide comprehensive testing options tailored to these specific disorders. Benefit from accurate and efficient diagnosis through our specialized panel testing.
Single Gene Test
Choose Single Gene Testing for the following scenarios:
- When there is a strong suspicion that specific gene(s) are responsible for your patient's symptoms.
- When you need to perform carrier testing for a couple, especially if one member is already known to carry a variant in a particular gene.
For instance, if a patient is a confirmed carrier of cystic fibrosis, and their partner seeks testing to assess their risk of having an affected child.
