Nephronophthisis and Senior-Loken Syndrome Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesGene CPT Codes Copy CPT Codes
10341 ANKS681479,81479 Add to Order
CEP16481479,81479
CEP29081408,81479
CEP8381479,81479
DCDC281479,81479
GLIS281479,81479
INVS81479,81479
IQCB181479,81479
NEK881479,81479
NPHP181406,81405
NPHP381479,81479
NPHP481479,81479
RPGRIP1L81479,81479
SDCCAG881479,81479
TMEM6781407,81479
TTC21B81479,81479
WDR1981479,81479
ZNF42381479,81479
Test Code Test Copy Genes Total Price Panel CPT Code Gene CPT Codes Copy CPT Code STAT
10341 Genes x (18) $1070 81479 81405, 81406, 81407, 81408, 81479 Add to Order

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click 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 (Hildebrandt et al. 1997; Hildebrandt et al. 2009). Nephronophthisis, when associated with Leber Congenital Amaurosis, is known as Senior-Loken syndrome (SLS) (Otto et al. 2005; Hildebrandt et al. 2009). NPH clinical features overlap with a group of diseases known as ciliopathies, which includes Meckel-Gruber Syndrome, Joubert Syndrome, Bardet-Biedl Syndrome and Leber congenital amaurosis.

Genetics

Nephronophthisis and Senior-Loken syndrome are genetically heterogeneous disorders. NPH and SLS are inherited in an autosomal recessive manner. NPH and SLS are caused by pathogenic variants in genes encoding proteins involved in cilia/centrosome structure, maintenance or function (Hildebrandt et al. 2009). See individual gene test descriptions for more information on molecular biology of gene products.

Testing Strategy

This panel typically provides ≥98% coverage of all coding exons of the genes 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 coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV

Sensitivity for Nephronophthisis testing is approximately 30% overall (Hildebrandt et al. 2009). This NGS test can detect the ~279kb deletion in the NPHP1 gene if it is present in the homozygous state.

Approximately 20% of individuals with nephronophthisis have a homozygous deletion encompassing the NPHP1 gene (Hoefele et al 2005; Hildebrandt et al 2009). Gross deletions or duplications that may not be detectable by NGS have been reported in CEP290, NPHP1, TMEM67 and SDCCAG8 (Human Gene Mutation Database).

Indications for Test

This test is for patients with Nephronophthisis or Senior-Loken Syndrome.

Genes

Official Gene Symbol OMIM ID
ANKS6 615370
CEP164 614848
CEP290 610142
CEP83 615847
DCDC2 605755
GLIS2 608539
INVS 243305
IQCB1 609237
NEK8 609799
NPHP1 607100
NPHP3 608002
NPHP4 607215
RPGRIP1L 610937
SDCCAG8 613524
TMEM67 609884
TTC21B 612014
WDR19 608151
ZNF423 604557
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Hildebrandt et al. 1997. PubMed ID: 9326933
  • Hildebrandt F. et al. 2009. Journal of the American Society of Nephrology : Jasn. 20: 23-35. PubMed ID: 19118152
  • Hoefele Julia et al. 2005. Human Mutation. 25: 411-411 PubMed ID: 15776426
  • Human Gene Mutation Database (Bio-base).
  • Otto et al. 2005. PubMed ID: 15723066

Ordering/Specimens

Ordering Options

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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