Description
Comprehensive Genetic Carrier Screening for Men Planning a Family
What Is Carrier Screening?
Carrier screening is a genetic test that identifies whether you carry mutations in certain genes that can be passed to your children. Although carriers are usually healthy, if both partners carry mutations in the same gene, there’s an increased chance their child could inherit a genetic disorder.
Why Choose the Complete 147-Gene Male Panel?
This extensive panel analyzes 147 genes associated with a broad range of inherited conditions, including:
- Autosomal recessive disorders (e.g., cystic fibrosis, spinal muscular atrophy, metabolic disorders)
- X-linked disorders that can affect male offspring (e.g., Duchenne muscular dystrophy, fragile X syndrome)
- Other clinically significant genetic diseases that impact reproductive risk
What Conditions Are Included?
The panel screens for many serious conditions, such as:
- Cystic Fibrosis (CFTR gene): A common genetic lung and digestive disorder.
- Spinal Muscular Atrophy (SMN1 gene): A leading cause of inherited infant mortality affecting motor function.
- Duchenne Muscular Dystrophy (DMD gene): A severe X-linked disorder causing progressive muscle weakness in males.
- Fragile X Syndrome (FMR1 gene): The most common inherited intellectual disability and autism spectrum disorder cause.
- Hemoglobinopathies and Thalassemias: Blood disorders that cause anemia and other complications.
- Various metabolic and neuromuscular diseases
Who Should Consider This Test?
- Men planning to father children
- Couples planning pregnancy who want comprehensive genetic risk assessment
- Individuals with a family history of inherited disorders
- Those of ethnic backgrounds with higher risk for specific genetic conditions (e.g., Ashkenazi Jewish, Mediterranean, African, Southeast Asian)
- Partners of women undergoing fertility treatments or carrier screening
Test Details
- Sample Type: Blood
- Fasting Required: No fasting required
