Nephronophthisis via the INVS / NPHP2 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
15251 INVS 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15251INVS81479 81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Nephronophthisis (NPH) is the most common genetic cause of progressive renal failure in children and young adults. NPH is characterized by polyuria, growth retardation, and progressive deterioration of renal function with normal or slightly reduced kidney size. Infantile or type 2 nephronophthisis (NPH2) (OMIM 602088) causes chronic renal failure in infants and children before 5 year of age. NPH2 is marked by the kidney phenotype of NPH along with kidney cysts (Otto et al. Nat Genet 34:413-420, 2003; Hildebrandt et al. J Am Soc Nephrol 20:23-35, 2009). NPH2 features may also include tubular basement membrane disruption, renal interstitial fibrosis, and moderate renal enlargement with or without situs inversus (Okada et al. Clin Nephrol 69:135-141, 2008). Additionally, NPH2 has been reported in an adolescent patient who had renal function beyond infancy with situs inversus (Okada et al. 2008).

Genetics

NPH2 is inherited in an autosomal recessive manner. Variants in the INVS gene (also called NPHP2) cause NPH2 (Otto et al. Nat Genet 34:413-420, 2003). Nephronophthisis exhibits locus heterogeneity. Nine NPH genes have been identified to date (NPHP1, INVS/NPHP2, NPHP3, NPHP4, IQCB1/NPHP5, CEP260/NPHP6, GLIS2/NPHP7, RPGRIP1L/NPHP8, and NEK8/NPHP9) (Hildebrandt et al. J Am Soc Nephrol 20:23-35, 2009). INVS gene encodes the inversin protein, which interacts with nephrocystin-1 (product of the NPHP1 gene) and β-tubulin in primary cilia and basal bodies (Otto et al. 2003). Also, it has been reported that the inversin protein has an important role in planar cell polarity signaling (Simons et al. Nat Genet 37:537-543, 2005). About 13 causative variants, a mix of nonsense, frameshift, splicing, and missense have been reported (Otto et al. 2003; Tory et al. Kidney Int 75:839-847, 2009).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This test provides full coverage of all coding exons of the INVS gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with symptoms consistent with NPH2 and the family members of patients who have known variants. Conclusive connections between clinical features and individual mutated genes have not yet been made. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in INVS.

Gene

Official Gene Symbol OMIM ID
INVS 243305
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Infantile Nephronophthisis AR 602088

Citations

  • Hildebrandt F. et al. 2009. Journal of the American Society of Nephrology : Jasn. 20: 23-35. PubMed ID: 19118152
  • Okada, M., et.al. (2008). "Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus." Clin Nephrol 69(2): 135-41. PubMed ID: 18218308
  • Otto EA, Schermer B, Obara T, O’Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, et al. 2003. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nature Genetics 34: 413–420. PubMed ID: 12872123
  • Simons, M., et.al. (2005). "Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways." Nat Genet 37(5): 537-43. PubMed ID: 15852005
  • Tory, K., et.al. (2009). "Mutations of NPHP2 and NPHP3 in infantile nephronophthisis." Kidney Int 75(8): 839-47. PubMed ID: 19177160

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

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2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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