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
Reflex testing is available for cultured fibroblast, amniotic fluid culture, and maternal cell contamination at additional charge depending on specimen type. For customization or single‑gene analysis, see Custom Gene Panel tool. Prenatal specimens require consultation. Consultation contact is available via 800‑533‑1710.
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
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
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 |