Diagnostics & Screening
Immunodeficiency diagnostic workup: essential preparation steps
The path to an inborn error of immunity (IEI) diagnosis is rarely a single blood test. It is usually a sequence of clinical…
Section
Diagnostics & Screening
Curated clinical updates, research breakdowns, and expert perspectives focusing on specific pathways of childhood immune development and pathology.
Diagnostics & Screening
Chromosomal microarray or whole exome sequencing: choosing the right diagnostic path
The pooled diagnostic yield of whole exome sequencing was approximately 37% in a 2025 meta-analysis of 102 studies involving…
Diagnostics & Screening
Lymphocyte subset panels: diagnostic pathways for recurrent infections
The diagnostic utility of lymphocyte subset panels in pediatric recurrent infections depends on clinical distribution, infection…
Diagnostics & Screening
Genetic testing pitfalls: choosing between panels and exomes
Targeted gene panels produced a molecular diagnosis in 56% of 780 patients evaluated for suspected primary immunodeficiency in a…
Diagnostics & Screening
TREC screening results: understanding false positives in newborns
T-cell receptor excision circles (TRECs) are stable, non-replicative episomal DNA by-products generated during V(D)J…
News
How psychiatry met pediatrics
According to a retrospective study from University of Rochester Medicine Golisano Children's Hospital analyzing more than 3,700…
News
South Korea Launches Whole-Genome Sequencing Initiative for Newborn Rare Disease Screening
Per the Asia Business Daily, the National Institute of Health under the Korea Disease Control and Prevention Agency has begun…
Diagnostics & Screening
Pediatric Immune Gene Panels: What to Gather Before Testing
The diagnostic yield for next-generation sequencing panels in primary immunodeficiency sits between 15% and 46%, depending on the…
Diagnostics & Screening
Pediatric Immunodeficiency VUS: Your Diagnostic Roadmap
A variant of uncertain significance can be one of the most difficult results in pediatric genetic testing—not because it is rare…
Diagnostics & Screening
Abnormal TREC screening: the diagnostic path to answers
An abnormal TREC screening result is a signal, not a diagnosis. It means that a newborn blood spot contains low or undetectable…
Diagnostics & Screening
Prenatal Genetic Screening: Checklist for At-Risk Families
The clinical landscape for families carrying a known primary immunodeficiency in their lineage is sharper than most prenatal…
Diagnostics & Screening
Cord blood vs heel prick for newborn SCID screening
Infants with severe combined immunodeficiency (SCID) have the highest clinical value from diagnosis before hematopoietic stem…
Diagnostics & Screening
Pediatric Flow Cytometry: From Blood Sample to Immune Diagnosis
When a child has an abnormal newborn screening result, recurrent or unusually severe infections, persistent lymphopenia…
Diagnostics & Screening
False Positive SCID Screens: Common Causes
A positive newborn screen for Severe Combined Immunodeficiency triggers a chain of events most pediatricians will navigate at…
Diagnostics & Screening
Gene panels vs exome sequencing for pediatric immunodeficiency
A molecular diagnosis of pediatric immunodeficiency is rarely just a matter of ordering the broadest available test. The choice…
Diagnostics & Screening
Pediatric Genetic Testing: Suspected Immunodeficiency Roadmap
When a child has recurrent infections, unexpectedly severe illness, poor vaccine responses, persistent lymphopenia, or a family…
News
Screening Newborn Blood Spots for Genetic Cancer Predisposition Markers
8% of children who developed solid or central nervous system malignancies before age 8, according to findings published in Nature.
News
Standardizing Diagnostic Protocols for Pediatric Mycoplasma pneumoniae Infections
A Medscape article dated August 2026, titled "Need for Best Practices in Pediatric M pneumoniae Testing," identifies an absence…
Diagnostics & Screening
Pediatric flow cytometry: why age-specific ranges matter
California's newborn screening program pushed 3,252,156 infants through T-cell receptor excision circle (TREC) testing from dried…
Diagnostics & Screening
Dihydrorhodamine assay: the path to CGD diagnosis
When a child has recurrent pneumonia, deep bacterial or fungal infections, unusually persistent lymphadenitis, or granulomatous…
Diagnostics & Screening
SCID screening follow-up: what to gather before the consult
A positive TREC newborn screening result for severe combined immunodeficiency is a referral, not a verdict — and the families…
Diagnostics & Screening
Genetic testing for childhood immune defects: prep checklist
When a child presents with recurrent sinopulmonary infections, failure to thrive, or unusual autoimmune phenomena, the…
Diagnostics & Screening
SCID screening false positives: avoiding diagnostic panic
An abnormal newborn SCID screening result is urgent, but it is not, by itself, a diagnosis of severe combined immunodeficiency…
Diagnostics & Screening
TREC vs KREC: comparing newborn immunodeficiency screens
Combined TREC/KREC newborn screening has identified severe T- and/or B-cell immunodeficiencies at a prevalence of 8.13 per…
Diagnostics & Screening
Prenatal genetic screening: when to test for immune defects
The conversation I keep having with genetics counselors goes something like this: a couple arrives after losing a first child to…
Diagnostics & Screening
Whole Exome Sequencing Path for Rare Pediatric Immune Disorders
When a child has recurrent, unusually severe, or difficult-to-explain infections, the clinical challenge is not simply to confirm…
News
Integrating Genomic Screening into Newborn Care to Detect Early Cancer Risks
Medical Xpress reports that pathogenic or likely pathogenic variants in 11 pediatric cancer-predisposition genes were found in…
Diagnostics & Screening
Pediatric flow cytometry: checklist before your child's test
In my experience running pediatric immunology cohorts, the difference between a clean flow cytometry readout and a clinically…
Diagnostics & Screening
Genetic Panels for Immunodeficiency: Costly Testing Traps
Genetic testing can clarify a child’s immune disorder, change the management pathway, and sometimes prevent years of repeated…