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.

Requisition Form

To order HNL Genomics' (CTGT) 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.

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.
Provider Brochure                          Patient Brochure
Turnaround Time
HNL Genomics (CTGT) strives to complete all carrier screening tests within 2 weeks of receipt of a sample in the laboratory.

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

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.


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