New in Immunology: Primary Immunodeficiency / Primary Ciliary Dyskinesia Panel

June 12, 2018

The aim of the new panel is to increase the clinical utility and diagnostic yield for patients with a clinical suspicion of primary immunodeficiency (PID), especially for those patients where primary ciliary dyskinesia (PCD) is included in the differential diagnosis. In these cases, the core symptoms are often very similar which complicates the correct diagnosis.

 The new Primary Immunodeficiency / Primary Ciliary Dyskinesia Panel is a unique combination of 308 carefully curated primary immunodeficiency and primary ciliary dyskinesia genes. Both primary immunodeficiency and primary ciliary dyskinesia often present with recurrent infections and may, at times, be difficult to distinguish clinically. This panel offers clinicians and their patients the opportunity to reach a genetic diagnosis in a more efficient fashion.

“Our recent R&D efforts in the area of genetic testing for hereditary immunodeficiencies have focused on improving transparency, clinical utility and validation of difficult-to-sequence genes”, says Chief Medical Officer and Laboratory Director Juha Koskenvuo.

In March 2018, more than 100 clinically relevant genes were added to the updated immunology panels.

“Recent results from hundreds of patients with a variety of PIDs have demonstrated an improved diagnostic yield with our updated panel in large part due to the inclusion of novel and very recently discovered disease genes”, Koskenvuo explains.

Genetic testing of hereditary immunodeficiencies typically includes genes associated with known primary immunodeficiencies (PIDs), such as severe combined immunodeficiency disease (SCID), chronic granulomatous disease, hypogammaglobulinemia, agammaglobulinemia, congenital neutropenias, CVIDs, autoinflammatory syndromes, complement system disorders and inherited bone marrow failure syndromes.

However, primary ciliary dyskinesia (PCD) genes are often overlooked on primary immunodeficiency panels. PCDs are a group of disorders characterized by chronic respiratory tract infections resembling those seen in many PIDs. Not all PCD patients will have other features such as situs abnormalities or infertility.  Further, they may not have been investigated for the features of PCDs as genetic testing is more often becoming the first line of investigation for many patients.

Genetic testing provides an accurate diagnosis for the patient and family, allowing for tailored treatment and family planning. In addition, detection of other at-risk family members provides the opportunity for early preventive treatment or lifestyle recommendations.

“Most PID patients require special treatment, close follow-up and supportive care. It is not uncommon that hereditary immunodeficiencies are resistant to conventional treatments”, Koskenvuo says.

PIDs largely present in infancy and most disorders have a low prevalence.

“Early detection allows for prompt, and at times life-saving, intervention. For some patients, stem cell transplantation or bone marrow transplant can prevent severe organ damage caused by infections and cure their PID”, Koskenvuo continues.

Blueprint Genetics’ new Primary Immunodeficiency Panel and Primary Ciliary Dyskinesia Panel demonstrated high-quality on analytic validation:

  • 0.997 sensitivity and 0.999 specificity for SNVs
  • 0.969, 0.989, and 0.999 sensitivity for detecting INDELs of 1-10, 11-20, and 21-30 bases, respectively
  • 99.6% of the target regions were covered with over 20x sequencing depth and >Q20 mapping quality for validation samples

Read the entire conclusion here (pdf).

Read more about immunology panels here.

Further information
Juha Koskenvuo, Chief Medical Officer and Laboratory Director,
Juulia Simonen, Communication Manager, +358503059018,

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