Bartter Syndrome Gene Panel
Use
Provides a genetic evaluation for patients with a personal or family history suggestive of Bartter syndrome and helps establish a diagnosis. Identification of a disease‑causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling.
Special Instructions
Not provided.
Limitations
Next‑generation sequencing may not detect all variant types; depth of coverage may vary and failed regions will be noted. Negative results do not rule out diagnosis. Regions with technical limitations (e.g., CNV exon 20 in CLCNKB) exist; see methodology document. Confirmation of select variants by alternative methods may occur. Variant reclassification is not routinely performed.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51966-0 - Gene dis DNA anl Pnl
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD) tube
Collection Instructions
Invert several times to mix blood; send whole blood specimen in original tube; do not aliquot.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |