SLC4A4

OMIMHGNC

Synonym(s): NBC1, HNBC1, NBC2, pNBC, hhNMC, SLC4A5

Locus: 4q13.3

Protein: Solute carrier family 4 sodium bicarbonate cotransporter member 4 variant C

 

Disorders

Tests

Test Type
Molecular (17)
Multi-Gene Panel (10)
Multi-Method Panel (6)
Test Method
Del/Dup (CNV) (6)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (7)
Sequencing, Next Gen (13)
Prenatal/Carrier
Prenatal (5)
Carrier (9)
Lab Location
Germany(4)
Portugal(1)
USA(5)
Spain(4)
Poland(1)
Finland(1)
Austria(1)
 
TAT: 3-4 weeks
price: contact lab
SLC4A4 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Bartter Syndrome, Panel Massive Sequencing (NGS) 23 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
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
TAT: 4-6 weeks
price: contact lab
Renal Tubular Acidosis Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Renal tubular acidosis, proximal, with ocular abnormalities (sequence analysis of SLC4A4 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 11-12 weeks
price: contact lab
SLC4A4 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-6 Weeks
price: contact lab
Glaucoma NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
SLC4A4
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
Renal Tubular Acidosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
Glaucoma (Glaukom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 3-5 weeks
price: $990.00
Proximal Renal Tubular Acidosis with Ocular Abnormalities via the SLC4A4 Gene
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Renal tubular acidosis, proximal, with ocular abnormalities
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
Renal Tubular Acidosis, Panel Massive Sequencing (NGS) ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
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
Proximal Renal Tubular Acidosis with Ocular Abnormalities, Sequencing SLC4A4 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain