KMT2D
-
Syndromic hearing loss
-
Choanal atresia
-
Anophthalmia and microphthalmia
-
Kidney pathology comprehensive panel
-
Congenital anomalies of the kidney and urinary tract
-
Cytopenias and inborn errors of immunity
-
Congenital hyperinsulinism
-
Hypoglycemia
-
Congenital cardiopathies
-
Common variable immunodeficiencies
-
Leukodystrophy- White Matter Disease Early Onset