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Autosomal Recessive Retinitis Pigmentosa 69 (RP69) via the KIZ 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
10609 KIZ 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10609KIZ81479 81479,81479 $890 Order Options and Pricing

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn 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

  • Dana Talsness, PhD

Clinical Features and Genetics

Clinical Features

Retinitis pigmentosa (RP) represents a group of hereditary retinal dystrophies with a worldwide prevalence of ~1 in 4,000 (Booij et al. 2005. PubMed ID: 16272259). RP is clinically characterized by retinal pigment deposits visible on fundus examination, nyctalopia ("night blindness"), followed by progressive degeneration of the photoreceptors, which eventually leads to blindness (van Soest et al. 1999. PubMed ID: 10025514).

Genetics

Nonsyndromic RP is remarkably heterogeneous both clinically and genetically and exhibits autosomal dominant (AD), autosomal recessive (AR) or X-linked (XL) inheritance. To date, over 50 loci have been linked to nonsyndromic RP and 18, 27 and 2 genes have been identified that are associated with AD, AR, and XL RP, respectively (RetNet).

Pathogenic variants in KIZ have been documented causative for autosomal recessive Retinal disorders (El Shamieh et al. 2017. PubMed ID: 29057815; Gustafson et al. 2017. PubMed ID: 28837078; El Shamieh et al. 2014. PubMed ID: 24680887). KIZ encodes the ciliary centrosomal protein kizuna, which is highly expressed in retina (El Shamieh et al. 2014. PubMed ID: 24680887). The KIZ protein plays a key role during cell-cycle progression and during mitosis localizes to mature centrioles and interacts with PLK1 in order to protect the centrosome from collapsing during spindle formation in a phosphorylation-dependent manner (El Shamieh et al. 2014. PubMed ID: 24680887). To date, fewer than 5 pathogenic variants (missense, nonsense and small frameshift deletions) in KIZ have been connected to RP (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Predicting clinical sensitivity for the KIZ gene is challenging due to genetic heterogeneity of retinal disorders and also due to the limited number of KIZ-associated retinitis pigmentosa cases. Analytical sensitivity should be high because all pathogenic variants reported are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the KIZ 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. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

All patients with symptoms suggestive of RP are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in KIZ.

Gene

Official Gene Symbol OMIM ID
KIZ 615757
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Retinitis Pigmentosa 69 AR 615780

Related Test

Name
Autosomal Recessive Retinitis Pigmentosa 77 (RP77) via the REEP6 Gene

Citations

  • Booij et al. 2005. PubMed ID: 16272259
  • El Shamieh et al. 2014. PubMed ID: 24680887
  • El Shamieh et al. 2017. PubMed ID: 29057815
  • Gustafson et al. 2017. PubMed ID: 28837078
  • Human Gene Mutation Database (Bio-base).
  • RetNet: Genes and Mapped Loci Causing Retinal Diseases.
  • van Soest et al. 1999. PubMed ID: 10025514

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.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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