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Primary Microcephaly, Autosomal Recessive, via the CEP152 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
8009 CEP152 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8009CEP15281479 81479,81479 $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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that results from hypoplasia of the cerebral cortex. The hallmark clinical feature of MCPH is head circumference at least three standard deviations below the population mean for age and sex (Jackson et al. 1998). In MCPH patients, microcephaly is usually detectable by the 32nd week of gestation and is apparent at birth (Woods et al. 2005). Typically, microcephaly persists throughout the patient’s lifetime. Additional features often include a sloping forehead, various degrees of cognitive disabilities, seizures, congenital hearing loss, and short stature. Brain imaging findings may include reduction of the cerebral cortical volume with simplification of the gyral cortical pattern, pachygyria with cortical thickening, lissencephaly, and polymicrogyria (Jackson et al. 2002; Passemard et al. 2009; Nicholas et al. 2010; Yu et al. 2010; Bacino et al. 2012). MCPH is panethnic. However, its incidence is variable and ranges from 1 in 30,000 to 1 in 250,000 living births (Verloes et al. 2009). Incidence is highest in populations where consanguineous marriages are broadly practiced (Bundey and Alam 1993).

Genetics

Autosomal recessive primary microcephaly is a genetically heterogeneous disorder. Several genes have been implicated in the disorder. These include: MCPH1, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1 and CDK6 (Faheem et al. 2015; Bond et al. 2002; Bilgüvar et al. 2010; Jackson et al. 2002; Guernsey et al. 2010; Bond et al. 2005; Kumar et al. 2009; Hussain et al. 2012).

CEP152 pathogenic variants appear to be a rare cause of MCPH. To date, only three pathogenic variants were reported in families from a Maritime Canadian subpopulation and Pakistan (Guernsey et al. 2010; Sajid Hussain et al. 2013). They include one missense and two truncating variants. Complex rearrangements or large pathogenic deletions have not been reported to date (Human Gene Mutation Database).

CEP152 codes for a centrosomal protein that is involved in microtubules organization and cell division (Andersen et al. 2003)

Clinical Sensitivity - Sequencing with CNV PGxome

CEP152 pathogenic variants appear to be a rare cause of autosomal recessive primary microcephaly. To date, only three variants were reported in four families from a Maritime Canadian subpopulation and from Pakistan (Guernsey et al. 2010; Hussain et al. 2013).

No large deletions or duplications have been reported to date in CEP152 (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the CEP152 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

Patients with head circumference at least three standard deviations below the age and sex mean, with or without central nervous system anomalies, and with a family history consistent with autosomal recessive mode of inheritance (Bacino et al. 2012). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CEP152.

Gene

Official Gene Symbol OMIM ID
CEP152 613529
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Primary Autosomal Recessive Microcephaly 9 AR 614852

Citations

  • Andersen J.S. et al. 2003. Nature. 426: 570-4. PubMed ID: 14654843
  • Bacino C.A. et al. 2012. American Journal of Medical Genetics. Part A. 158A: 622-5. PubMed ID: 22308068
  • Bilgüvar K. et al. 2010. Nature. 467: 207-10. PubMed ID: 20729831
  • Bond J. et al. 2002. Nature Genetics. 32: 316-20. PubMed ID: 12355089
  • Bond J. et al. 2005. Nature Genetics. 37: 353-5. PubMed ID: 15793586
  • Bundey S., Alam H. 1993. European Journal of Human Genetics. 1: 206-19. PubMed ID: 8044647
  • Faheem M. et al. 2015. Bmc Medical Genomics. 8 Suppl 1: S4. PubMed ID: 25951892
  • Guernsey D.L. et al. 2010. American Journal of Human Genetics. 87: 40-51. PubMed ID: 20598275
  • Human Gene Mutation Database (Bio-base).
  • Hussain M.S. et al. 2012. American Journal of Human Genetics. 90: 871-8. PubMed ID: 22521416
  • Jackson A.P. et al. 1998. American Journal of Human Genetics. 63: 541-6. PubMed ID: 9683597
  • Jackson A.P. et al. 2002. American Journal of Human Genetics. 71: 136-42. PubMed ID: 12046007
  • Kumar A. et al. 2009. American Journal of Human Genetics. 84: 286-90. PubMed ID: 19215732
  • Nicholas A.K. et al. 2010. Nature Genetics. 42: 1010-4. PubMed ID: 20890279
  • Passemard S. et al. 2009. Neurology. 73: 962-969. PubMed ID: 19770472
  • Sajid Hussain M. et al. 2013. Clinical Genetics. 83: 446-51. PubMed ID: 22775483
  • Verloes et al. 2009. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301772
  • Woods C.G. et al. 2005. American Journal of Human Genetics. 76: 717-28. PubMed ID: 15806441
  • Yu T.W. et al. 2010. Nature Genetics. 42: 1015-20. PubMed ID: 20890278

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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