IGHV Mutation Status Now Included in clonoSEQ Diagnostic Assay in CLL


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An upgraded model of the clonoSEQ® B-cell Clonality diagnostic tool has been released, which will now include IGHV mutation status for patients with chronic lymphocytic leukemia.

Javier Pinilla-Ibarz, MD, PhD

Javier Pinilla-Ibarz, MD, PhD

An upgraded model of the clonoSEQ® B-cell Clonality diagnostic tool has been released, which will now include IGHV mutation status for patients with chronic lymphocytic leukemia (CLL), according to a press release from Adaptive Biotechnologies, the developer of the assay.1

Since September 30, 2021, all clonoSEQ B-cell Clonality evaluations have included IGHV mutation status.

“clonoSEQ is a tool I utilize often to assess MRD [minimal residual disease] status in my patients that require time-limited therapy for CLL, not only because it is valuable for helping predict potential relapse or survival but also because it informs my patient management. Now that patients will also receive their IGHV mutation status through clonoSEQ testing, it will become an even more valuable diagnostic for hematologists to use at the start of patient workups, potentially saving patients both cost and time as there is only one test with two results,” Javier Pinilla-Ibarz, MD, PhD, senior member and head of the Lymphoma Program in the Department of Malignant Hematology at Moffit Cancer Center, said in a press release.

IGHV mutation status is prognostic in CLL, with mutated IGHV conferring improved outcomes. Guidelines from the National Comprehensive Cancer Network and the International Workshop on CLL advise testing for IGHV in patients with newly diagnosed CLL.

On August 7, 2020, the FDA cleared the clonoSEQ assay to detect and monitor MRD in the blood or bone marrow of patients with CLL, augmenting its existing indications in multiple myeloma and B-cell acute lymphoblastic leukemia.2 Although the clonoSEQ IGHV mutation status is not FDA cleared or approved, access to clonoSEQ for patients with CLL is supported by Medicare coverage of clonoSEQ in CLL.

The test for IGHV mutation status is a Clinical Laboratory Improvement Amendments–validated lab-developed test.

“With the insights provided by clonoSEQ both through IGHV status at the time of diagnosis and through MRD status during and after treatment, physicians can better personalize treatment regimens in CLL,” said Pinilla-Ibarz.

For patients who may benefit from clonoSEQ assessment but are unable or prefer not to undergo a blood draw in a hospital or clinic, access to blood collection services at Labcorp Patient Service Centers in the United States or within the patient’s own home will be made available through Adaptive’s partnership with Phlebotek Solutions, a nationwide provider of mobile phlebotomy services.

“The inherent design of the clonoSEQ assay enables assessment of a patient’s IGHV mutation status and identification of the trackable sequences we use to monitor their MRD at the same time, so it was a natural evolution for us to make,” Lance Baldo, MD, chief medical officer of Adaptive Biotechnologies, said. “We are happy to be able to make the diagnostic journey even simpler by providing physicians and their patients with 2 clinically valuable CLL tests from a single sample.”


  1. Adaptive biotechnologies launches enhanced clonoSEQ® assay reports for patients with chronic lymphocytic leukemia, now featuring IGHV mutation status. News release. Adaptive Biotechnologies. September 30, 2021. Accessed October 19, 2021. https://yhoo.it/3pfH5V4
  2. Adaptive Biotechnologies receives expanded FDA clearance for the clonoSEQ® assay to assess minimal residual disease (MRD) in patients with chronic lymphocytic leukemia. News release. Adaptive Biotechnologies. August 6, 2020. Accessed October 19, 2021. https://bit.ly/3BVG7RC
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