Know your risks

Carrier screening provides information that could help save your child’s life.

What is Carrier Screening?

Carrier screening provides you and your physician with information regarding your reproductive risks and how they may impact your children. By identifying each parent’s genetic risks, families can understand the chance that a child may or may not be affected by certain conditions.

What is a Carrier?

Every individual has two copies of each gene within their body. You receive one copy from your mother and one from your father. The combination is what determines your characteristics. A carrier is someone that has one normal copy of the gene and one abnormal copy. Often times, carriers do not exhibit signs of health problems because they still possess one normal copy. It is common for individuals to be unaware of their carrier status.

The Process

How is Carrier Screening Performed?

  1. Talk to your doctor to determine which screening panel is right for you
  2. Place order on-line or through your ordering physician (provide information for insurance billing or payment for patient-pay price)
  3. Receive kit
  4. Obtain ordering physician signature and provide informed consent
  5. Collect specimen (using kit and instructions provided)
  6. Ship to Baby Genes using included return shipping label and materials
  7. Lab processes sample, generates data and final results
  8. Results will be provided to your ordering physician

 

Test Options

Expanded Carrier Screening

109 Genes covering over 100 associated conditions to include Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X.

Test Code 3105

Basic Carrier Screening

Three conditions recommended by ACOG for reproductive eligible women. Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X.

Test Code 3110

Ashkenaki Jewish Screen

Targeted mutations covering thirteen diseases common in the Ashkenazi Jewish population.

Test Code 3104

Cystic Fibrosis Carrier Screening

Full exonic sequencing of the CFTR gene to cover as many mutations as possible. Targeted Copy Number is also performed.

Test Code 3102

Spinal Muscular Atrophy Screening

Next-Generation Sequencing of the SMN1 gene to determine exon 7/8 deletion status as well as the silent carrier (2+0) allele.

Test Code 3103

Fragile X Carrier Screening

PCR-based assay to determine the CGG repeats in the FMR1 gene.

Test Code 3101

 

Take the next step for your family's health.
Order a kit today, or start a conversation with your physician.