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.

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.

For more literature on carrier screening at CTGT, please see our provider and patient brochures.
Provider Brochure                          Patient Brochure
Turnaround Time
CTGT strives to complete all carrier screening tests within 2 weeks of receipt of a sample in the laboratory.

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 email to 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.

What's New

April 11, 2022

Genome Sequencing: A Vital Tool Used in Identifying and Tracking New COVID-19 Variants

Genome sequencing is reading or decoding the complete genetic information i.e. “Genome” of an organism that is encrypted in the form of a very long string called DNA made up of 4 letters, A, T, G, and C. The genome of an organism essentially determines their physical characteristics and ...
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March 03, 2022

The Effect of Genetics on Individual Heart Health: Early Identification of FH Variations to Optimize Treatment

Test must be ordered by a Physician.

Familial hypercholesterolemia (FH) is a genetic disorder that is characterized by abnormally high blood levels of low-density lipoprotein (LDL) cholesterol, sometimes referred to as "bad cholesterol". This condition affects an estimated 1 in 250 people, and increases the likelihood of developing cardiovascular disease. In fact, FH is estimated to be the cause of 2-3% of heart attacks in individuals younger than age 60.

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October 13, 2021 A New Website Experience

We've refreshed our look and feel to better meet your needs. 

CTGT's new website is not only user-friendly but also provides more advanced test search capabilities, additional methodologies, and a clean design suited for multi-platform usage.

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September 28, 2021

9 New Tests for Genetic Carrier Screening Panels

CTGT is now offering 9 NEW tests for Genetic Carrier Screening. 
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September 25, 2021

New York State Clinical Laboratory Permit Approval

CTGT is proud to announce that its CLIA licensed and CAP-accredited Pennsylvania laboratory has earned a New York State Department of Health clinical laboratory permit to perform genetic testing for patients residing within the state of New York. 
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