Whole-genome test identifies CHARGE syndrome in infant after months of unexplained symptoms

A Dante Labs whole-genome test found a pathogenic CHD7 variant in a 9-month-old girl with heart, airway, feeding and ear complications, giving her care team a single diagnosis for a cluster of symptoms. The result also showed the variant was de novo, helping doctors guide care and counsel the family on future pregnancy risk.

Why it matters: - A single genome-wide test tied together symptoms that had been treated as separate problems. - The diagnosis gives Amira’s doctors a clearer path for coordinating heart, airway, feeding, hearing and developmental care. - The finding also helped the family understand the cause of the condition and the risk of recurrence in future pregnancies. - CHARGE syndrome can be life-threatening in infancy when it is not recognized and managed as a multi-system disorder.

What happened: - Amira, a 9-month-old infant, had congenital heart disease, excessive drooling, velopharyngeal incompetence, ear malformations and low oxygen at birth. - Her pediatrician ordered a Dante Labs Whole Genome test through DanteLabs.com. - Dante Omics AI said the test identified a pathogenic variant in the CHD7 gene linked to CHARGE syndrome. - The result gave Amira’s care team a genetic explanation for symptoms that had not previously fit one diagnosis.

The details: - The test used a non-invasive collection kit designed to be suitable for newborns and infants. - Dante Labs Whole Genome sequencing reads the full genome at clinical-grade 30X coverage. - The platform includes intronic regions, not just protein-coding DNA. - Analysis found a heterozygous splice donor variant in intron 27 of CHD7. - The variant disrupts how the gene’s instructions are assembled and was classified as pathogenic. - Both parents were sequenced and did not carry the variant. - That result indicates a de novo change. - CHARGE syndrome is estimated to affect about 1 in 10,000 newborns. - The acronym refers to coloboma, heart defects, atresia of the choanae, growth retardation, genital abnormalities and ear abnormalities.

Between the lines: - The case shows why broad genomic testing can be more efficient than a step-by-step series of narrow gene panels when symptoms span multiple organ systems. - A single diagnosis can shorten the search for answers and reduce the chance that specialists treat only one piece of a larger condition. - Early genetic identification can help clinicians anticipate problems that may appear later, including vision, hearing, growth and hormonal issues. - Dante Omics AI said the case reflects the value of advanced genomics in personalized medicine.

What’s next: - Amira’s care team can now build follow-up around the expected course of CHARGE syndrome. - Her doctors can coordinate specialty visits instead of working from isolated symptoms. - The family now has information they can use for long-term planning and genetic counseling. - Dante Labs said individuals, families and physicians can order the Dante Labs Whole Genome test at DanteLabs.com.

The bottom line: - For Amira, whole-genome sequencing turned a confusing list of symptoms into one diagnosis, one care plan and a clearer future path.