Nephronophthisis and Situs Inversus via the ANKS6 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
11019 ANKS6 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11019ANKS681479 81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

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

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 (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 (OMIM 249000), Joubert syndrome (OMIM 213300), Bardet-Biedl syndrome (OMIM 209900), and Senior-Loken syndrome (OMIM# 609294). Situs inversus is a laterality defect where the visceral and thoracic organs are reversed from their normal positions (Sutherland and Ware 2009).

Genetics

NPH is a genetically heterogeneous disorder caused by mutations in at least 14 genes, including ANKS6 (Hoff et al. 2013; Taskiran et al. 2014). ANKS6-related NPH is inherited in an autosomal recessive manner. NPH is caused by mutations in genes encoding proteins involved in cilia/centrosome structure, maintenance or function (Hildebrandt et al. 2009). ANKS6 is required to localize NPHP3/NEK8 complex to the axoneme (Hoff et al. 2013). Individuals with biallelic pathogenic variants in ANKS6 are reported to have had polycystic kidney disease (PKD). Individuals with missense variants had PKD with normal sized kidneys, while those with splicing or truncating variants had PKD with enlarged kidneys and liver fibrosis, congenital heart defects and situs inversus (Hoff et al. 2013; Taskiran et al. 2014).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity is problematic to predict due to genetic heterogeneity of these disorders and the paucity of documented cases. Analytical sensitivity may be high because all ANKS6 mutations reported to date are expected to be detected by direct sequencing of genomic DNA.

Testing Strategy

This test provides full coverage of all coding exons of the ANKS6 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.

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

Indications for Test

This test is for patients with nephronophthisis (NPH) with or without liver fibrosis, congenital heart defects and situs inversus. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ANKS6.

Gene

Official Gene Symbol OMIM ID
ANKS6 615370
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Nephronophthisis 16 AR 615382

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
  • Hoff S, Halbritter J, Epting D, Frank V, Nguyen T-MT, Reeuwijk J van, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, et al. 2013. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nature Genetics 45: 951–956. PubMed ID: 23793029
  • Otto et al. 2005. PubMed ID: 15723066
  • Sutherland and Ware. 2009. PubMed ID: 19876930
  • Taskiran EZ, Korkmaz E, Gucer S, Kosukcu C, Kaymaz F, Koyunlar C, Bryda EC, Chaki M, Lu D, Vadnagara K, Candan C, Topaloglu R, et al. 2014. Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype with ESRD. Journal of the American Society of Nephrology 25: 1653–1661. PubMed ID: 24610927

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

1) Select Test Type


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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