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Currarino Syndrome via the MNX1 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
9829 MNX1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9829MNX181479 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

  • Erin Sybouts, PhD

Clinical Features and Genetics

Clinical Features

Currarino syndrome is an autosomal dominant disorder characterized by a triad of a presacral mass, anorectal malformation, and sacral agenesis (Köchling et al. 2001. PubMed ID: 11528505; Hagan et al. 2000. PubMed ID: 10749657; Lynch et al. 2000. PubMed ID: 10922380). The distinct feature of this syndrome is sacral anomaly and hence this disease is also known as hereditary sacral agenesis (HSA). There is a considerable variability of disease penetrance and expressivity. The complete triad was found in only about 30-40% of patients.

Genetics

Currarino syndrome is an autosomal dominant disorder due to defects in the MNX1 gene (also known as HLXB9) (Köchling et al. 2001. PubMed ID: 11528505; Hagan et al. 2000. PubMed ID: 10749657; Ross et al. 1998. PubMed ID: 9843207). This disease is caused by defective dorsal-ventral patterning during embryonic development. As mentioned above, there is a considerable variability of disease penetrance. An obvious genotype-phenotype correlation is lacking.

The MNX1 gene (three coding exons) encodes motor neuron and pancreas homeobox protein 1. To date, documented genetic defects of MNX1 include both missense and truncating variants (nonsense, splicing variants and small indels) (Human Gene Mutation Database). Large deletions and complex rearrangements have also been reported (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

In a study of 28 patients with familial or sporadic Currarino syndrome, pathogenic variants in MNX1 were detected in 20 of 21 patients with familial Currarino syndrome and in 2 of 7 patients with sporadic Currarino syndrome (Hagan et al. 2000. PubMed ID: 10749657).

In another study of 9 families with Currarino syndrome, pathogenic variants in MNX1 were detected in 4 of 4 patients with familial Currarino syndrome and in 1 of 5 simplex families (sporadic cases) (Köchling et al. 2001. PubMed ID: 11528505).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This test provides almost full coverage of all coding exons of the MNX1 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).

This test does not include variants within c.310 to c.400 (NM_005515) due to sequence complexity.

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 Currarino syndrome or hereditary sacral agenesis. Testing is also indicated for family members of patients who have known pathogenic variants in the MNX1 gene.

Gene

Official Gene Symbol OMIM ID
MNX1 142994
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Currarino Syndrome AD 176450

Citations

  • Hagan et al. 2000. PubMed ID: 10749657
  • Human Gene Mutation Database (Bio-base).
  • K√∂chling et al. 2001. PubMed ID: 11528505
  • Lynch et al. 2000. PubMed ID: 10922380
  • Ross et al. 1998. PubMed ID: 9843207

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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