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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 7595 | BSND | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
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).
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.
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.
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.
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.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
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
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
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ORDER OPTIONS
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2) Select Additional Test Options
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