Number of Panel Genes:
3
Familial juvenile hyperuricemic nephropathy is an autosomal dominant disorder. Mutations in three genes, REN, SEC61A1, and UMOD, have been shown to cause this disorder. It is characterized by hyperuricemia as a result of reduced kidney excretion of uric acid and progressive renal failure. Additional features may include gout, cystic kidneys, anemia, and high blood pressure.
read moreTests Available
3 Panel Genes: REN, SEC61A1, UMOD
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Next Generation Sequencing
$1,100
Test Code: 5400
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Deletion / Duplication
$990
Test Code: 5401
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NGS/Del Dup Comprehensive
$1,300
Test Code: 5402
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Test Details
Technical Information
Panel Genes:
REN, SEC61A1, UMOD
Disease Groups:
Kidney Disorders
Billing
CPT Codes:
81406 x 1
81479 x 1
Ordering
SKU:
5400 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.