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Hydrocephalus, Congenital 2 with or without Brain or Eye Anomalies via the MPDZ 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
MPDZ 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
12013MPDZ81479 81479,81479 $990 Order Options and Pricing

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 platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

Turnaround Time

3 weeks on average for standard orders or 2 weeks 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.


Genetic Counselors


  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Hydrocephalus, congenital, 2 with or without brain or eye anomalies is non-syndromic hydrocephalus with prenatal onset. Other symptoms can include intellectual disability, seizures, developmental motor delay, congenital heart septal defects, and varying degrees of dysmorphic facial features. Multiple ependymal malformations have also been observed in patients. In addition, eye anomalies can include optic atrophy, acular hypoplasia and foveal dysplasia. Prenatal ultrasound may reveal macrocephaly with severe bilateral or isolated ventriculomegaly. Brain MRI may show massive hydrocephalus (Al-Jezawi et al. 2018. PubMed ID: 29499638; Saugier-Veber et al. 2017. PubMed ID: 28460636; Shaheen et al. 2017. PubMed ID: 28556411).


Hydrocephalus, congenital, 2 with or without brain or eye anomalies is inherited in an autosomal recessive manner and is caused by pathogenic variants in the MPDZ gene. MPDZ encodes the multiple PDZ domain protein. Pathogenic variants in MPDZ gene include missense, nonsense, splicing and small frameshift deletions. Large deletions and duplications have not been reported yet at the MPDZ locus (Human Gene Mutation Database). A founder effect due to certain pathogenic variants has been reported in Saudi patients (Shaheen et al. 2017. PubMed ID: 28556411).

MPDZ localizes at cellular junctions and its multiple domains bind multivalent scaffold proteins which regulate intracellular signaling, receptor clustering and polarity of epithelial cells (Al-Jezawi et al. 2018. PubMed ID: 29499638; Saugier-Veber et al. 2017. PubMed ID: 28460636; Shaheen et al. 2017. PubMed ID: 28556411).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity of MPDZ in a large cohort of patients with congenital hydrocephalus and other relevant phenotypes is unavailable in the literature, because most of the studies are case reports. MPDZ is one of the important genes for congenital hydrocephalus.

Testing Strategy

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

MPDZ sequencing is recommended for patients who have congenital hydrocephalus with or without brain or eye anomalies. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MPDZ.


Official Gene Symbol OMIM ID
MPDZ 603785
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 AR 615219


  • Al-Jezawi et al. 2018. PubMed ID: 29499638
  • Human Gene Mutation Database (Biobase).
  • Saugier-Veber et al. 2017. PubMed ID: 28460636
  • Shaheen et al. 2017. PubMed ID: 28556411


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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

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2) Select Additional Test Options

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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