![]() Who is eligible?Īt this time, the Genetic Counseling and Testing Program is available to a person who is at- risk for SCA1, SCA2, and SCA3 because they have a family member with a confirmed genetic diagnosis. After counseling, if the participant and genetic counselor determine that testing is the right decision, genetic testing for SCA1, SCA2, and SCA3 will be offered at no-cost to the participant. Eligible participants will receive virtual genetic counseling at no-cost to them. NAF, in partnership with our Drug Development Collaborative, is now offering this program to overcome any obstacles that may prevent individuals from receiving genetic counseling and testing. Genetic testing is also often a requirement for participation in clinical trials for SCAs. Genetic testing can help inform decisions around family planning, healthcare/lifestyle choices, and professional/financial planning. Genetic testing to confirm a diagnosis of Ataxia can be an incredibly useful tool for persons with a family history of Ataxia. NAF is offering free virtual genetic counseling and genetic testing for individuals who are at-risk for SCA1, SCA2, or SCA3. Evaluation and Management of Ataxic Disorders (PDF).Connect Your Patient with an Ataxia Specialist.EL-PFDD Meeting for Polyglutamine Ataxias.International Congress for Ataxia Research.COVID-19 Information for Ataxia Patients.International And Other Ataxia Organizations.The performance metrics of our laboratory in Marlborough, MA are equivalent. The performance metrics listed below are from an initial validation performed at our main laboratory in Finland. ![]() Blueprint Genetics’ Plus Analysis is a combination of both sequencing and deletion/duplication (copy number variant (CNV)) analysis. Plus analysis increases the likelihood of finding a genetic diagnosis for your patient, as large deletions and duplications cannot be detected using sequence analysis alone. The diagnostic yield varies depending on the assay used, referring healthcare professional, hospital and country. These sample types were selected in order to maximize the likelihood for high-quality DNA yield. Please see our sequencing and detection performance table for details regarding our ability to detect different types of alterations (Table).Īssays have been validated for various sample types including EDTA-blood, isolated DNA (excluding from formalin fixed paraffin embedded tissue), saliva and dry blood spots (filter cards). Our variant specific tests are sectioned from our high-quality, clinical grade NGS assay. Additionally, if you have deep intronic variant detected at another laboratory than Blueprint Genetics, please contact our Support for further information on eligibility. Structural variant and repeat expansion testing is not available. Alu element repeats are not available for testing in cases where the index patient was tested at another laboratory. MtDNA analysis is not available for Targeted Variant Testing. Targeted Variant Testing for CNVs is not available for prenatal samples. Testing of prenatal samples can be done only in cases where the index patient was tested at Blueprint Genetics.
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