This page is dedicated to Specialty Diagnostic, Clinical and Translational Research Laboratory Services.
Specialty Diagnostic Clinical and Translational Research Lab
Pediatric Outpatient Services
Overview
The Orlando Health Arnold Palmer Hospital for Children Pediatric Specialty Diagnostic Laboratory performs specialized tests not commonly performed in clinical diagnostic laboratories. Testing is performed by highly trained team members and the lab is equipped with robotic instrumentation to ensure accuracy and precision.
Translational Research
The pediatric specialty diagnostic lab is engaged in translational research to deliver better treatments for various conditions. Current research pursuits include:
- Efficient and accurate method of quantification of microbial load in the small intestine by characterization of the microbiome using cutting-edge next-generation sequencing (NGS) methodologies and bioinformatics analyses
- Studies on the clinical outcome of SIBO/SIMO diagnosis by a new method of using duodenal brushing samples
- Retrospective analysis of digestive enzyme activities in comparison to the histological changes and clinical characteristics of children
- Use of biomarkers to identify preventive measures for the occurrence of microaspiration in intubated patients
- A novel method to diagnose eosinophilic esophagitis in children by measuring eosinophilic biomarkers in esophageal brushing samples
- Small intestinal permeability testing in children with various gastrointestinal disorders
- Clinical impact of disaccharidase testing in the adult population
- Genotype and Phenotype correlation study and genetic test development for the diagnosis of congenital sucrase-isomaltase deficiency (CSID) by using NGS methods (QOL Medical, LLC sponsored projects)
- Clinical association of LIPA gene mutations detected by NGS of DNA from archived tissues of patients with liver disease symptoms indicative of undiagnosed lysosomal acid lipase deficiency (LALD) (Alexion Pharma, Inc. sponsored project)
- Development of alternative clinical interventions using complementary and integrative medicine to address chronic diseases such as IBS
- Use of cutting edge omic science technologies in elucidating pathophysiological mechanisms and biomarkers developments for various GI and allied diseases
Specialized Pediatric Testing
- Test performed on small bowel mucosal biopsy obtained at endoscopy.
- Lactase deficiency is common, with prevalence up to 90%, depending on ethnic background.
- Testing for other related disaccharidase deficiencies, such as:
- Sucrase-isomaltase deficiency
- Glucoamylase deficiency (may present as irritable bowel syndrome)
- Maltase deficiency
- Multiple deficiencies are seen in conditions leading to mucosal injury:
- Viral, bacterial or protozoal infections
- Post-infectious enteritis
- Small intestinal bacterial overgrowth (SIBO)
- Allergic enteropathy
- Celiac disease
- Crohn’s disease
- NSAID enteropathy
- Test performed on pancreatic fluid obtained at endoscopy after pancreatic stimulation with cholecystokinin (CCK) or secretin
- Only 0.5 ml of fluid is required for analysis of amylase, lipase, trypsin, chymotrypsin and elastase using single or multiple fluids
- Low pancreatic enzyme activity can be the consequence of:
- Pancreatic damage
- Chronic pancreatitis
- Cystic fibrosis
- An isolated enzyme deficiency
- Transient (in the first 5-6 months of life)
- Permanent (congenital enzyme deficiency)
- Pancreatic damage
- Sample collected from tracheal washing or bronchial lavage (BAL)
- Pepsin A presence is specifically determined. Gastric pepsin detected in the airway of patients is an indicator of pulmonary aspiration. The presence of amylase in airway fluid is indicative of microaspiration of oral fluid.
Congenital Sucrase-Isomaltase Deficiency (CSID) genetic test by next-generation sequencing (NGS) of clinical specimens, including, but not limited to biopsies, biopsy homogenates, buccal swabs, FFPE tissue sections, etc. CSID genetic test detects mutations in the entire sucraseisomaltase (SI) gene. This will identify all known, unknown or potentially significant pathogenic SI gene variants including heterozygous, compound heterozygous or homozygous mutations.
The small intestine and stomach are generally sterile or may contain low numbers of bacterial cells. If the number of cultivable bacteria in the small intestine exceeds 104 CFU/ml, then it manifests the small intestinal microbial overgrowth (SIBO/SIMO) condition.
SIBO/SIMO may cause:
- Malabsorption of various nutrients (like fat and vitamins)
- Destruction of the surface layer
- Protein loss
- Anemia
- Diarrhea
- Irritable bowel syndrome (IBS)
Sample is a brushing of the mucosal layer from the small intestine.
- Eosinophil activation plays an important role in inflammatory processes in allergic diseases, including eosinophilic esophagitis (EoE).
- Upon activation, eosinophils secrete several cationic proteins, including eosinophil-derived neurotoxin (EDN), a glycosylated single-chain protein.
- EDN is detected by ELISA in esophageal brushing samples to diagnose and monitor EoE.
- Assessment of small intestinal absorption and barrier function in the bowel
- Intestinal permeability or leaky gut has been observed in inflammatory bowel disease (IBD) and food allergy
- Lactulose-Mannitol assay measures the ability of these two non-metabolized sugar molecules to permeate the intestinal mucosa
Healthier Kids, Stronger Families
Orlando Health Arnold Palmer Hospital for Children has provided compassionate care to the children, teenagers and young adults of Central Florida for more than 30 years. Led by dedicated doctors, specialist and caregivers, Orlando Health Arnold Palmer offers a wide range of advanced pediatric services in an environment built just for kids.
