22q11.2 Deletion syndrome

What is 22q11.2 Deletion syndrome?

22q11.2 deletion syndrome, or as it is sometimes referred to, DiGeorge syndrome, is a genetic disorder. It is often referred to by several different names and presents with a wide range of symptoms that can affect almost any part of the body. The characteristics and symptoms of the syndrome vary greatly between individuals and even amongst individuals with the same family syndrome.

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What gene changes cause 22q11.2 Deletion syndrome?

22q11.2 deletion syndrome occurs due to the deletion of DNA base pairs on chromosome 22. Known as a contiguous gene deletion syndrome, researchers are currently identifying the specific gene deletions that contribute to each of the syndrome's various symptoms.

1 in every 4,000 live births in the US will present with 22q11.2 deletion syndrome, and most cases are the first in a family. In 1 in 10 cases, one parent will pass the deletion to their child.

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What are the main symptoms of 22q11.2 Deletion syndrome?

22q11.2 deletion syndrome and DiGeorge syndrome represent a spectrum of syndromes that share congenital heart defects, immunological abnormalities, and variable facial features.

The main symptoms of 22q11.2 deletion syndrome can vary significantly between individuals. Congenital heart defects are a common feature of the syndrome. Other health conditions include cleft palate, feeding issues, gastrointestinal problems, problems with the immune system and resultant infections, low levels of calcium in the blood and related health conditions, ENT issues, and missing or damaged kidneys.

Mental health conditions associated with 22q11.2 deletion syndrome include increased risk for OCD, autism, ADD, and delays in growth, speech, and the potential for learning disabilities. Behavioral and developmental delays are common.

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How does someone get tested for 22q11.2 Deletion syndrome?

The initial testing for 22q11.2 deletion syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing. 

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What is FDNA Telehealth?

FDNA Telehealth is a leading digital health and AI (Artificial intelligence) company operating in the rare disease and genetic condition field. FDNA has developed a portfolio of AI-based technologies for screening, diagnostics and support for rare genetic analysis. As a precision medicine solution, FDNA Telehealth assists patients and their families stranded or paused within their diagnostic odyssey.

Benefits of FDNA Telehealth


Our facial recognition diagnostic technology is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients. FDNA has over 8 years of extensive experience in researching and developing solutions for rare genetic condition analysis.


FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors - within 24 hours if requested. Eliminate the wait for answers and prevent delays in your diagnostic journey.

Ease of use

As a virtual care platform, FDNA Telehealth provides a seamless process that accompanies parents and families from initial diagnosis reports, to meetings with genetic counselors, to clinical consultations with geneticists, genetic testing, and beyond.

Accuracy & Precision

Every analysis we run provides a list of suggested syndromes updated and recalculated with every new parameter added by you or our clinicians. Our unique decision support tool uses advanced artificial intelligence capabilities and technology that provides a 90% accuracy rate in detecting the correct phenotype.

Value for

With a unique combination of advanced AI technology and diagnostic tools, FDNA Telehealth provides faster access to genetic counselors, geneticists, and genetic testing, all to bring you
closer to a diagnosis.

Privacy & Security

FDNA Telehealth uses advanced technologies to protect your personal health information (PHI). Our decision support tool compliant with HIPAA and the European Union (EU) data privacy rules and standards, including General Data Protection Regulation (GDPR).

Over 400 million people are living with a rare disease globally, but most of them are misdiagnosed or paused within their diagnostic odyssey. Get a faster and more accurate analysis with FDNA Telehealth.