Number of Panel Genes: 
29

Nephronophthisis (NPH) is characterized by a reduced concentrating ability of the kidney, chronic tubulointerstitial nephritis, and cystic kidney disease that lead to renal failure. There are three clinical subtypes based on the age of onset: infantile, juvenile, and late onset. Infantile NPH can present as prenatal oliguria and oligohydramnios leading to postnatal respiratory failure and death, or the onset can be postnatal with severe renal failure in the first years of life.read more

Tests Available

29 Panel Genes: AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TMEM138, TMEM216, TMEM67, TRAF3IP1, TTC21B, WDR19, XPNPEP3, ZNF423
Next Generation Sequencing
$1,420
Test Code: 5394
Deletion / Duplication
$990
Test Code: 5395
NGS/Del Dup Comprehensive
$1,795
Test Code: 5396

Test Details

Technical Information
Panel Genes: 
AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TMEM138, TMEM216, TMEM67, TRAF3IP1, TTC21B, WDR19, XPNPEP3, ZNF423
Disease Groups: 
Kidney Disorders
Billing
Price: 
$1,420
CPT Codes: 
81406 x 1
81407 x 1
81408 x 2
81479 x 25
Ordering
SKU:
5394
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: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. 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.

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