Hypomagnesemia: gene panel
Speciality(ies) / Other Speciality(ies)
Endocrinology
Metabolic Diseases
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
24
Test / Mutation List
BSND, CASR, CLCNKB, CLDN16, CLDN19, CNNM1, CNNM2, CNNM4, EGF, EGFR, FXYD2, HNF1B, KCNA1, KCNJ10, MAGT1, MMGT1, NIPA2, PCBD1, SARS2, SLC12A3, SLC41A2, SLC41A3, TRPM6, TRPM7
TAT
2 to 3 months
Sample Type
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.