SLC12A2

OMIMHGNC

Synonym(s): NKCC1, BSC, BSC2, PPP1R141

Locus: 5q23.3

Protein: SLC12A2 protein

Tests

Test Type
Molecular (5)
Multi-Gene Panel (3)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (2)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (1)
Sequencing, Next Gen (4)
Prenatal/Carrier
Prenatal (2)
Carrier (2)
Lab Location
Portugal(1)
Poland(1)
Spain(1)
Germany(2)
 
Ion Channel Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Bartter Syndrome
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Deafness, autosomal recessive 49 (sequence analysis of SLC12A2 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 3-4 weeks
price: contact lab
Bartter syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Bartter Syndrome panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany