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.
HNL Genomics (CTGT) 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.
Ordering a Carrier Screening Test
HNL Genomics (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.
For more literature on carrier screening at HNL Genomics (CTGT), please see our provider and patient brochures.
HNL Genomics (CTGT) makes every effort to expedite cases involving ongoing pregnancies and cases with other special circumstances (for example, surgery or bone marrow transplant is dependent on the results). If a sample needs to be expedited, please indicate on the requisition form or contact us at (484) 244-2900 or secure form. Please be reminded not to send patient information via unencrypted email as email is inherently unsecure