DNA icon

Primrose Syndrome via the ZBTB20 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
8259 ZBTB20 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8259ZBTB2081479 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).

Primrose syndrome (PRIMS) is a form of syndromic ID that is caused by the deficiency of Zinc finger and BTB-domain containing protein ZBTB20. The clinical features of PRIMS may include (but may not be limited to) cognitive and motor delay, intellectual disability, hypotonia, short stature, obesity, macrocephaly, brachycephaly, schizophrenia, behavioral abnormalities such as autism, tics, phobias, self-injurious behavior, repetitive compulsive movements, restlessness, aggressiveness, and variable anomalies of the head, neck, skin, hair, nail as well as genitourinary and skeletal systems, including wide forehead, large jaw, midface hypoplasia, large calcified pinnae, hearing loss, cataract, ptosis, deep-set eyes, small and downturned mouth, narrow chest, joint contractures, osteoporosis, distal muscle wasting, dysmorphic toe nails and fingernails, and sparse scalp hair (Mathijssen et al. 2006. PubMed ID: 16530709; Dalal et al. 2010. PubMed ID: 20644156; Carvalho and Speck-Martins. 2011. PubMed ID: 21567911). Of note, some features may be progressive (Primrose. 1982. PubMed ID: 6809950), and there is at least one report of germ cell tumor development (Mathijssen et al. 2006. PubMed ID: 16530709). Affected individuals have also been reported with congenital hypothyroidism, hypergonadotrophic hypogonadism and insulin-resistant diabetes mellitus in adulthood (Dalal et al. 2010. PubMed ID: 20644156, Posmyk et al. 2011. PubMed ID: 21910247).

Genetics

Primrose syndrome is an autosomal dominant disorder, caused by pathogenic variants (primarily de novo) in human gene Zinc finger and BTB-domain containing protein 20 (ZBTB20). ZBTB20 maps to chromosome 3q13.31 and consists of 4 coding exons that translate into a 741 amino acid polypeptide. ZBTB20 is a member of the POK (POZ and Kruppel) family of transcriptional repressors that interact with DNA via their conserved C2H2 Kruppel-type zinc finger and BTB/POZ domains (Sutherland et al. 2009. PubMed ID: 19273596). ZBTB20 protein is hypothesized to play important role in growth, glucose homeostasis and detoxification. To date, primarily missense variants have been reported in human ZBTB20 gene (Human Gene Mutation Database).

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 the majority of pathogenic variants reported within this gene to date are detectable by sequencing. To date, 4 gross deletions and complex rearrangements involving ZBTB20 have been reported (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the ZBTB20 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, and Fragile-X syndrome and also for the family members of the patients who have ZBTB20 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
ZBTB20 606025
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Primrose Syndrome AD 259050

Citations

  • Carvalho and Speck-Martins. 2011. PubMed ID: 21567911
  • Dalal et al. 2010. PubMed ID: 20644156
  • Human Gene Mutation Database (Bio-base).
  • Mathijssen et al. 2006. PubMed ID: 16530709
  • Posmyk et al. 2011. PubMed ID: 21910247
  • Primrose. 1982. PubMed ID: 6809950
  • Sutherland et al. 2009. PubMed ID: 19273596
  • Vissers et al. 2016. PubMed ID: 26503795

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

loading Loading... ×

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: $
×
Copy Text to Clipboard
×