Bartter Syndrome Type 4 via the BSND Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7595 BSND 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7595BSND81479 81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Bartter syndrome is defined by hypokalemic metabolic alkalosis. BSND-related Bartter syndrome is characterized by severe renal salt wasting and sensorineural deafness (Birkenhäger et al. 2001; Krämer et al. 2008). However, a wide phenotypic spectrum exists. BSND defects can also cause nonsyndromic deafness (Riazuddin et al. 2009). Age at first manifestation is typically in the perinatal stage.

Genetics

Bartter syndrome, type IV is an autosomal recessive disorder caused by defects in the BSND gene (Birkenhäger et al. 2001; Riazuddin et al. 2009). BSND has 4 exons that encode barttin, an accessory subunit of renal and inner ear chloride channels (Estévez et al. 2001). Genetic defects of BSND include missense, nonsense, splicing site mutations, and exon-level large deletions (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the BSND gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Clinical Sensitivity - Sequencing with CNV PG-Select

Mutation detection rate of the BSND gene in a larger cohort of patients with Bartter syndrome, type IV is unavailable in the literature because documented BSND mutations have been reported only in individual cases. However, BSND mutations appear to be a rare cause of Bartter syndrome.

Indications for Test

Candidates for this test are patients with Bartter syndrome, type IV. Testing is also indicated for family members of patients who have known BSND mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in BSND.

Gene

Official Gene Symbol OMIM ID
BSND 606412
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Bartter Syndrome Type 4 AR 602522

Related Test

Name
Hypomagnesemia Panel

Citations

  • Birkenhäger R, Otto E, Schürmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, et al. 2001. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat. Genet. 29: 310-314. PubMed ID: 11687798
  • Estévez R, Boettger T, Stein V, Birkenhäger R, Otto E, Hildebrandt F, Jentsch TJ. 2001. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature 414: 558-561. PubMed ID: 11734858
  • Human Gene Mutation Database (Bio-base).
  • Krämer BK, Bergler T, Stoelcker B, Waldegger S. 2008. Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. Nat Clin Pract Nephrol 4: 38-46. PubMed ID: 18094726
  • Riazuddin S, Anwar S, Fischer M, Ahmed ZM, Khan SY, Janssen AGH, Zafar AU, Scholl U, Husnain T, Belyantseva IA, Friedman PL, Riazuddin S, et al. 2009. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. Am. J. Hum. Genet. 85: 273-280. PubMed ID: 19646679

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

loading Loading... ×

ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Total Price: $
×
Copy Text to Clipboard
×