List of diseases covered by
Hypomagnesemia NGS panel

Gene Condition
BSND Bartter syndrome, type 4a
CASR Hyperparathyroidism, neonatal;
Hypocalcemia, autosomal dominant; Hypocalciuric hypercalcemia, type I;
Epilepsy idiopathic generalized, susceptibility to, 8
CLCNKB Bartter syndrome, type 3; Bartter syndrome, type 4b, digenic
CLDN16 Hypomagnesemia 3, renal
CLDN19 Hypomagnesemia 5, renal, with ocular involvement
CNNM2 Hypomagnesemia 6, renal;
Hypomagnesemia, seizures, and mental retardation
CNNM4 Jalili syndrome
EGF Hypomagnesemia 4, renal
FAM111A Kenny-Caffey syndrome, type 2;
Gracile bone dysplasia
FXYD2 Hypomagnesemia 2, renal
HNF1B Renal cysts and diabetes syndrome;
Diabetes mellitus, noninsulin-dependent; Renal cell carcinoma
KCNA1 Episodic ataxia/myokymia syndrome
KCNJ10 Enlarged vestibular aqueduct, digenic;
SESAME syndrome
MAGT1 Congenital disorder of glycosylation, type Icc;
Immunodeficiency, X-linked, with magnesium defect,
Epstein-Barr virus infection and neoplasia
PCBD1 Hyperphenylalaninemia, BH4-deficient, D
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
SLC12A3 Gitelman syndrome
TRPM6 Hypomagnesemia 1, intestinal