Description

Comprehensive Genetic Carrier Screening for Women Planning a Family

What Is Carrier Screening?

Carrier screening is a genetic test that determines if you carry mutations in certain genes that could be passed on to your children. Carriers are typically healthy but may pass on genetic conditions to their offspring if both parents carry mutations in the same gene. This test is crucial for:

  • Assessing your risk of having a child with an inherited condition
  • Guiding reproductive decisions
  • Planning for early intervention or specialized care

Why Choose the Complete 157-Gene Female Panel?

This extensive panel tests for 157 genes associated with over 200 inherited conditions, including:

  • Autosomal recessive disorders (e.g., cystic fibrosis, Tay-Sachs disease, spinal muscular atrophy)
  • X-linked disorders (e.g., fragile X syndrome, Duchenne muscular dystrophy)
  • Other clinically significant conditions such as metabolic disorders, blood disorders, and neuromuscular diseases

What Conditions Are Included?

The panel covers a broad spectrum of disorders, including but not limited to:

  • Cystic Fibrosis (CFTR gene): The most common inherited lung disease affecting breathing and digestion.
  • Spinal Muscular Atrophy (SMN1 gene): A leading genetic cause of infant mortality affecting muscle strength and movement.
  • Tay-Sachs Disease (HEXA gene): A neurodegenerative disorder common in certain populations such as Ashkenazi Jews.
  • Fragile X Syndrome (FMR1 gene): The most common inherited cause of intellectual disability and autism spectrum disorders.
  • Thalassemias and Hemoglobinopathies: Genetic blood disorders causing anemia and other complications.
  • Gaucher Disease, Canavan Disease, Niemann-Pick Disease: Various metabolic and neurological disorders.

This panel also includes rarer conditions with significant health impacts.

Who Should Consider This Test?

  • Women planning pregnancy or currently pregnant
  • Couples planning to conceive, especially when both partners want genetic insights
  • Individuals with a family history of inherited disorders
  • Those from ethnic backgrounds with increased risk of certain genetic conditions (e.g., Ashkenazi Jewish, Mediterranean, African, Southeast Asian)
  • Couples undergoing assisted reproductive technologies (ART) such as IVF

Test Details

  • Sample Type: Blood
  • Fasting Required: No fasting required