DNA icon

Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance via the OPHN1 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
9857 OPHN1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9857OPHN181479 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. 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

  • Luke Drury, PhD

Clinical Features and Genetics

Clinical Features

X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance (OMIM 300486) is a clinically heterogeneous disorder with intrafamilial and interfamilial phenotypic variability (Zanni et al. Neurology 65:1364-1369, 2005). X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance is mainly characterized by moderate to severe mental retardation and cerebellar anomalies, particularly cerebellar vermis hypoplasia presented as isolated vermis hypoplasia and common facial features such as prominent supraorbital ridges, hypotelorism, deep-set eyes, long tubular nose, short philtrum, thin upper lip, and prominent chin (Billuart et al. Nature 392:923-926, 1998; Philip et al. J Med Genet 40:441-446, 2003; Zanni et al. 2005). Brain imaging (MRI) may also reveal cerebral atrophy, ventriculomegaly, and rarely hydrocephalus (Zanni et al. 2005). Other clinical findings such as tall stature, macrocephaly, hypotonia, developmental delay, seizures, oculomotor problems, language problems, and neurological and behavioral problems such as dysmetria, adiadochokinesia, hyperactivity, and anxiety have been occasionally reported (Philip et al. 2003; Zanni et al. 2005).

Genetics

X-linked mental retardation with cerebellar hypoplasia is inherited as X-linked recessive disorder, where males are more severely affected than females. However heterozygous females may have mild cognitive impairments (Zanni et al. Neurology 65: 1364-1369, 2005). X-linked mental retardation with cerebellar hypoplasia is caused by variants in the oligophrenin-1 (OPHN1) gene (Billuart et al. Nature 392: 923-926, 1998). OPHN1 gene encodes the oligophrenin-1 protein, which contains a domain common in Rho-GTPase-activating proteins suggesting a role in cell migration and outgrowth of axons and dendrites, neuronal morphogenesis and synapse maturation (Billuart et al. 1998; Zanni et al 2005). A mix of nonsense, splice site, frameshift, and single- and multiple-exon deletion variants have been reported in the OPHN1 gene (Billuart et al. 1998; Philip et al. J Med Genet 40: 441-446, 2003; Bergmann et al. Brain 126:1537-1544, 2003, Chabrol et al. Am J Med Genet 138: 314-317, 2005).

Clinical Sensitivity - Sequencing with CNV PGxome

OPHN1 variants were found in approximately 12% of patients with mental retardation with known cerebellar anomalies and in about 1% of X-linked mental retardation patients (Zanni et al. Neurology 65:1364-9, 2005).

Testing Strategy

This test provides full coverage of all coding exons of the OPHN1 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

Candidates for this test are patients with symptoms consistent with X-linked mental retardation with cerebellar hypoplasia and family members of patients who have known OPHN1 variants.

Gene

Official Gene Symbol OMIM ID
OPHN1 300127
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Bergmann, C., et.al. (2003). PubMed ID: 12805098
  • Billuart, P., et.al. (1998). PubMed ID: 9582072
  • Chabrol, B., et.al. (2005). PubMed ID: 16158428
  • Philip, N., et.al. (2003). PubMed ID: 12807966
  • Zanni, G., et.al. (2005). PubMed ID: 16221952

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
×