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Human Genetics Conditions We Evaluate
22q11.2 Deletion and Duplication Syndromes
Alagille Syndrome
Beckwith-Wiedemann Syndrome
Chronic Granulomatous Disease (CGD)
Congenital Disorders of Glycosylation (CDG)
Congenital Heart Disease
Cornelia de Lange Syndrome
Dravet Syndrome
Epidermolysis Bullosa
Friedreich's Ataxia
Genetic Cervical Spine Conditions
Hemihyperplasia
KCNB1-Related Disorders
KCNC1-Related Disorders
KCNQ2-Related Epilepsies
Mitochondrial Disease
Mucopolysaccharidosis Type 1
Mucopolysaccharidosis Type II
Noonan Syndrome
Pallister-Killian Syndrome
PCDH19-Epilepsy
PTEN Hamartoma Tumor Syndrome
SCN2A-Related Disorders
SCN3A-Related Neurodevelopmental Disorders
SCN8A-Related Epilepsy
Skraban-Deardorff Syndrome
Spondyloepiphyseal Dysplasia Congenita
STXBP1-Related Disorders
Wiskott-Aldrich Syndrome
WT1-Related Wilms Tumor Syndromes