About The Test

The Heredi-T™ CF Test

The Heredi-T CF test from Sequenom CMM is a laboratory-developed test that analyzes 136 mutations and 5 variants that have been proven to be clinically relevant. The test interrogates phenotypically relevant (disease-causing) mutations that were selected from the Johns Hopkins CFTR2 database (http://www.cftr2.org). The CF and CF associated disease-causing mutations were identified by collecting data from North American and European patient registries. As a result, medical professionals ordering the Heredi-T CF test can have confidence when using the impactful information when counseling their patients.

Clinical Indications for Screening

All patients should be offered carrier screening. Additional consideration should be given to the following patients:

• Family history of CF in the patient or partner's family¹
• Ultrasound findings that indicate an increased risk for CF-echogenic bowel or dilated loops of bowel²
• History of male infertility¹
• The presence of one of these clinical indications increases the risk for CF.

Easy to Implement

• Can be performed preconception or anytime during pregnancy
• Simple collection of either 1x10mL EDTA lavender top tube of whole blood or 2 SK1 buccal swabs
• Results turnaround on average in 7 business days from receipt of sample in the lab
• Affordable, patient-friendly billing policy and patient assistance program

References

1. Update on carrier screening for cystic fibrosis. ACOG Committee Opinion No. 486. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2011;117:1028-1031.
2. Dicke JM, Crane JP. Sonographically detected hyperechoic fetal bowel significance and implications for pregnancy management. Obstet Gynecol. 1992;80(5):778-782.