Bartter/Gitelman Syndromes


Test Details
TEST CODE NGS392
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 8
CPT CODE 81404, 81406, 81407 x2, 81479
PRICE $1795
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance Bartter syndrome and Gitelman syndrome (also called tubular hypomagnesemia-hypokalemia with hypocalciuria) are autosomal recessive disorders with a characteristic set of metabolic abnormalities. These include hypokalemia, metabolic alkalosis, hyperreninemia, hyperplasia of the juxtaglomerular apparatus (the source of renin in the kidney), hyperaldosteronism, and, in some patients, hypomagnesemia. The hyperaldosteronism associated with Bartter and Gitelman syndromes is a secondary form of hyperaldosteronism that results from a volume contraction-induced increase in renin. These patients are not hypertensive. Gitelman syndrome is a much more common disease than Bartter syndrome. In a report from the Framingham Heart Study, the prevalence of Gitelman syndrome was 1 in 40,000 compared with 1 in 1,000,000 for Bartter syndrome. The estimated prevalence of heterozygotes with one of the genetic mutations that cause these disorders is at least 1 percent.
Relevant Diseases
  • Bartter/Gitelman Syndromes

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: Acceptable specimen types: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80┬░Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. Cell culture media may be requested from MNG; (6) Buccal cells.
Shipping Condition: Shipping instructions: MNG Kits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG Kit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped frozen in an insulated container with 5-7lbs dry ice. (3) T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge. (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted). (5) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). Ship priority overnight.

Genes Assessed
BSND
CASR
CLCNKA
CLCNKB
HNF1B
KCNJ1
SLC12A1
SLC12A3

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