MichoSwab: to rule out mitochondrial disorder or dysfunction
Comprehensive stool testing
Organic Acid test
Heavy metal testing
Folate receptor antibody testing
Blood work with your pediatrician: Full whole genome sequencing (WGS), cholesterol, iron levels, uric acid, thyroid panel, full carnitine panel, vitamin D, zinc (RBC), plasma amino acids
Chronic underlying infections
Whole Exome sequencing (WES) – exome. All of the protein coding sequencing + splice sites.
Nutrigenomic testing such as COMT correlated with mood to MTHFR that is responsible for methylating folate
Angelman syndrome: UBE3A: absent speech, epilspy, ataxia, bizarre laughing, hypopigmentation. This is a ubiquitous disease.
CACNA1s: ion channel for calcium that can be on the muscle cell – can see myotonia with this. Cyclic vomiting can be seen with this
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