Preimplantation Genetic Testing for Aneuploidy (PGT-A)
Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)
Clinical Whole Exome Sequencing (cWES)
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Target Mutations
Testing for Target Mutations is a type of genetic testing that analyzes specific genes for mutations or changesthat can indicate an increased risk of developing certain diseases or conditions.
Overall, testing for target
mutations can help individuals make informed decisions about their health and may lead to earlier intervention and treatment for certain inherited conditions.
Target mutation testing may also be recommended for:
Individuals with a family history of a particular genetic condition to confirm if they have the associated genes.
Individuals who are experiencing symptoms associated with a specific genetic disorder need confirmation.
Couples who plan to have children and want to assess their risk of passing on a known family genetic condition to their offspring.
Confirmation of a genetic disease that was determined using a different type of platform.
Turnaround times for specific tests vary as per the table below. TATs are calculated from the time the sample is received and accepted at the laboratory.
| Product Name | Product Code | TAT |
|---|---|---|
| Thalassemia Seq-(α+β) Screening** | SDX3102 | TBD |
| Fragile X Syndrome Test | SDX3103 | 10 days |
| Hemophilia A** | SDX3104 | TBD |
| Single Gene Testing by Sanger (Single Mutation) | SDX3105 | 20 days |
| DMD (Duchenne Muscular Dystrophy) by MLPA | SDX3106 | 10 days |
| Single Gene Testing by qPCR | SDX3107 | 20 days |
| SMA (Spinal Muscular Atrophy) by MLPA | SDX3108 | 10 days |
Genalive Genetic Counselors are available to Healthcare providers to help navigate which test is best for their patient.
