Germline (Hereditary) Genetics

Target Mutations

Group 30599 (1)

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.

Indications for Testing

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.

Genalive offers the following Target Mutation tests:

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

**Test Pending Availability

Genalive Genetic Counselors are available to Healthcare providers to help navigate which test is best for their patient.