Bartter syndrome Type 1 and Type 2 Sequencing

Bartter syndrome is an autosomal recessive disorder. It is classified as either classic or neonatal. This syndrome is categorized into 5 subtypes according to underlying genetic defects. A closely associated disorder, Gitelman syndrome, is milder than both classifications of Bartter syndrome. Our facility tests for Types 1 and 2 which are neonatal.

In 90% of cases, neonatal Bartter syndrome is seen between 24 and 30 weeks of gestation with excess amniotic fluid. After birth, the infant is seen to urinate and drink excessively. Life-threatening dehydration may result if the infant does not receive adequate fluids. About 85% of infants dispose of excess amounts of calcium in the urine and kidneys, which may lead to kidney stones. In rare occasions, the infant may progress to renal failure

Bartter syndrome type 1 is caused by a loss of function in the SLCA12A1 gene while Bartter syndrome type 2 is caused by a mutation in the ROMK gene, specifically the KCNJ1 region.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 255.13

Test Requisition: Sequencing Requisition

CPT Code: 81479 Cost: $1623.00 if sequencing both genes total cost $3203.00

Turn-around-time: 5-6 weeks for first gene

Turn-around-time: 3-4 weeks for second gene