Carrier screening, before or during pregnancy, can help determine the risk of having a child with a genetic disorder. The American College of Obstetricians and Gynecologists (ACOG) recommends that all women be offered pre/post-conception carrier screening for cystic fibrosis and spinal muscular atrophy. Additionally, ACOG supports carrier screening for other disorders based on the patient’s medical and family history. CTGT offers several options for carrier screening, including single disorder tests and multiple disorder panels. Full gene sequencing and large deletion/duplication analysis is performed for these carrier tests to obtain the highest sensitivity regardless of ethnic background. Spinal muscular atrophy testing includes assessment of SMN1/2 copy number and silent carrier risk. Fragile X testing include determination of the number of CGG repeats in the 5’UTR of FMR1.

Requisition form

To order CTGT’s carrier screening tests, please use the Genetic Carrier Screening Test Requisition Form.

For assistance with prior authorization for carrier screening tests, please see the Prior Authorization Information Packet.

Ordering a Carrier Screening Test

CTGT offers the following carrier screening tests. Please click on the test name for more information about the test, including acceptable specimens and turnaround times.

Common Carrier Screening Panel
Extended Carrier Screening Panel
Cystic Fibrosis Carrier Screening
Duchenne/Becker Muscular Dystrophy Carrier Screening
Fragile X Carrier Screening
Alpha Thalassemia Carrier Screening
Sickle Cell anemia and Beta Thalassemia Carrier Screening
Phenylketonuria Carrier Screening
Spinal Muscular Atrophy Carrier Screening
 
For more literature on carrier screening at CTGT, please see our provider and patient brochures.
Provider Brochure                          Patient Brochure

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