May 12, 2026

HNL Genomics: 22q11.2 Deletion Syndrome Testing Now Available with NIPS Expansion

Prenatal Genetic Screening Now Available

HNL Genomics now offers expanded non-invasive prenatal screening (NIPS) that includes 22q11.2 deletion syndrome detection. This advanced prenatal screening option helps providers and families gain earlier genetic insights during pregnancy using a simple maternal blood test. Screening can typically be performed as early as 10 weeks of pregnancy

HNL Genomics: 22q11.2 Deletion Syndrome Testing Now Available with NIPS Expansion

At HNL Lab Medicine, we are committed to making advanced genetic testing more accessible for patients and providers.

We are excited to announce the expansion of our non-invasive prenatal screening (NIPS) panel to include 22q11.2 deletion syndrome, one of the most common microdeletion syndromes.

 

What is 22q11.2 Deletion Syndrome?

22q11.2 deletion syndrome is a genetic condition caused by a small missing piece of chromosome 22. In most cases, the syndrome occurs for the first time in the affected person but about 10% of cases are inherited from a parent ¹.

It is inherited in an autosomal dominant manner, which means that if a parent has the deletion, each child has a 50% chance of inheriting it.

22q11.2 deletion syndrome occurs in about 1 in 4,000 people ². However, the condition may actually be more common than this estimate because doctors and researchers suspect it is underdiagnosed due to its variable features.

 

Symptoms of 22q11.2 Deletion Syndrome

The condition can look very different from person to person. Some individuals may have only mild symptoms, while others may face more significant medical challenges. Symptoms may start to appear at any time in life and can include ¹:

  • Heart defects
  • Immune system problems
  • Cleft palate or other facial differences
  • Kidney abnormalities
  • Hypoparathyroidism
  • Thrombocytopenia
  • Scoliosis
  • Hearing loss
  • Developmental delays or learning differences
  • Higher risk for certain psychiatric conditions later in life

Because of this wide spectrum, early detection can play an important role in planning care.

 

Different Names for 22q11.2 Deletion Syndrome

Before genetic testing was available, healthcare providers described the condition based on varying symptoms.

Today we know all of these names describe the same condition: 22q11.2 Deletion Syndrome. Some other names for this condition include ²:

  • 22q11.2DS
  • Autosomal dominant Opitz G/BBB syndrome
  • CATCH22
  • Cayler cardiofacial syndrome
  • Conotruncal anomaly face syndrome (CTAF)
  • Deletion 22q11.2 syndrome
  • DiGeorge syndrome
  • Sedlackova syndrome
  • Shprintzen syndrome
  • VCFS
  • Velo-cardio-facial syndrome
  • Velocardiofacial syndrome

 

Why Screen for 22q11.2 Deletion?

Including 22q11.2 deletion in NIPS provides patients and providers with important information earlier in pregnancy. With early detection:

  • Families can prepare for specialized medical care if needed
  • Providers can connect parents with genetic counseling and support services
  • Delivery planning can include the right specialists for newborn care

For many families, knowing about 22q11.2 deletion ahead of time helps reduce uncertainty and supports informed decision-making.

 

How the Test Works

Like standard NIPS, this expanded screening is a simple blood test performed during pregnancy. The test looks at small fragments of DNA from the placenta that circulate in the mother’s blood. Using advanced genomic technology, it can detect whether the baby may have 22q11.2 deletion.

  • Timing: The test can usually be done as early as 10 weeks of pregnancy
  • Accuracy: No screening test is diagnostic, but NIPS with 22q11.2 deletion detection offers high sensitivity and specificity. Positive results should be followed by confirmatory testing, such as chorionic villus sampling (CVS) or amniocentesis
  • Reporting: Results are delivered clearly, with genetic counseling available to help families and providers understand next steps

 

Who Should Consider This Test?

Screening for 22q11.2 deletion is an option for all pregnant patients. It may be especially valuable for those who:

  • Want more comprehensive prenatal information
  • Have ultrasound findings that raise concerns about 22q11.2 deletion
  • Have a personal or family history of congenital heart disease, cleft palate, or related features

 

Supporting Families and Providers

At HNL Lab Medicine, we believe in giving patients and providers not only accurate results but also the support needed to act on them. We offer:

  • Access to board certified experts
  • Clear, clinically relevant reporting
  • Convenient local collection sites across our network

Adding 22q11.2 deletion syndrome to our NIPS panel represents an important step forward in prenatal care. It gives families more knowledge, helps providers plan the right care, and supports healthier outcomes for newborns. For more information, visit HNL Genomics or contact us today.

 

REFERENCES
¹ Genetic and Rare Diseases Information Center. (2025, September). 22q11.2 deletion syndrome. National Institutes of Health. https://rarediseases.info.nih.gov/diseases/10299/index.
² National Library of Medicine. (2019, December 01). 22q11.2 deletion syndrome. National Institutes of Health. https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/.