Number of Panel Genes:
9
Bartter syndrome is a genetically heterogeneous kidney disorder with defective sodium, potassium and chloride reabsorbtion in the thick ascending loop of Henle. Bartter syndrome is divided into two main forms; antenatal and classic Bartter syndrome. The classic form is typically less severe than the antenatal form with the age of onset in early childhood.read more
Tests Available
9 Panel Genes: BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3
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Next Generation Sequencing
Test Code: 5391
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Deletion / Duplication
Test Code: 5392
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NGS/Del Dup Comprehensive
Test Code: 5393
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Test Details
Technical Information
Panel Genes:
BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3
Disease Groups:
Kidney Disorders
Billing
CPT Codes:
81404 (KCNJ1) x 1
81405 x 1
81406 x 1
81407 (SCL12A1, SLC12A3) x 1
81479 x 1
Ordering
SKU:
5391 Turnaround Time:
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.