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White-Sutton Syndrome via the POGZ 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
8023 POGZ 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8023POGZ81479 81479(x2) $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.

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).

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 13 days 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

  • Renee Bend, PhD

Clinical Features and Genetics

Clinical Features

Intellectual Disability (ID) is a heterogeneous group of neurodevelopmental disorders, characterized by congenital limitation in intellectual functioning (intelligence quotient, IQ ≤70), and adaptive behavior. It is diagnosed in ~1–3% of the population before 18 years of age (American Association of Intellectual and Developmental Disabilities, AAIDD).

White-Sutton syndrome is a form of syndromic intellectual disability that leads to delayed psychomotor development, intellectual disability, seizures, sleep difficulties, autism, self-injurious behavior, short stature, microcephaly, brachycephaly, deafness, feeding difficulties, dysmorphic features including hypotonic facies, short philtrum, low-set and posteriorly rotated ears, and abnormalities of head, neck, skeletal, visual, cardiovascular, and gastrointestinal systems (The Deciphering Developmental Disorders Study 2015. PubMed ID: 25533962; Tan et al. 2016. PubMed ID: 26763879; Stessman et al. 2016. PubMed ID: 26942287).

Genetics

Pathogenic variants ( primarily de novo) in the human “POGO Transposable Element with ZNF Domain” gene (POGZ) have been reported in several cases with White-Sutton syndrome (White et al. 2016. PubMed ID: 26739615). POGZ maps to chromosome 1q21.3 and consists of 18 coding exons that encode the 1410 amino acid polypeptide POGZ. POGZ contains a cluster of multiple C2H2-type zinc fingers, a centromere protein (CENP) B-like DNA-binding domain, and a DDE domain that might regulate gene expression (Stessman et al. 2016. PubMed ID: 26942287). POGZ, a heterochromatin protein 1α-binding protein, is involved in mitotic cell cycle progression, kinetochore assembly and mitotic sister chromatid cohesion and is hypothesized to function as a transcriptional regulator in molecular networks crucial for neuronal function (Nozawa et al. 2010. PubMed ID: 20562864; Tan et al. 2016. PubMed ID: 26763879). To date, apart from small frameshift deletions/duplications, missense and nonsense variants, one gross duplication and one gross deletion involving POGZ have been reported. The disease transmission pattern is autosomal dominant.

Clinical Sensitivity - Sequencing with CNV PGxome

This test is predicted to detect pathogenic variants in <0.1% of individuals with intellectual disability (ID). In this context, it is important to note that although pathological variants over 800 genes have been identified in individuals with ID, a genetic diagnosis is still lacking in most cases due to extreme clinical and genetic heterogeneity of the condition (Vissers et al. 2016. PubMed ID: 26503795). Analytical sensitivity should be high because most pathogenic variants reported within this gene to date are detectable by sequencing. To date, one gross deletion and one gross duplication involving POGZ have been reported.

Testing Strategy

This test provides full coverage of all coding exons of the POGZ 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

This test is primarily implicated for the patients with intellectual disabilities who are negative for any kind of cytogenetic abnormalities, copy number variations, Fragile-X syndrome, and also for the family members of the patients who have POGZ pathogenic variants. Prenatal diagnosis is possible, if the genetic diagnosis has been firmly established in an affected family member.

Gene

Official Gene Symbol OMIM ID
POGZ 614787
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
White-Sutton Syndrome AD 616364

Citations

  • Nozawa et al. 2010. PubMed ID: 20562864
  • Stessman et al. 2016. PubMed ID: 26942287
  • Tan et al. 2016. PubMed ID: 26763879
  • The Deciphering Developmental Disorders Study 2015. PubMed ID: 25533962
  • Vissers et al., 2016. PubMed ID: 26503795
  • White et al. 2016. PubMed ID: 26739615

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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