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Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome via the FLVCR2 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
13361 FLVCR2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
13361FLVCR281479 81479,81479 $890 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 backbone).

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

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

  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, also known as Fowler syndrome or encephaloclastic proliferative vasculopathy, is a rare vascular brain disorder with prenatal onset. As of 2010, only around 40 cases had been reported. The major symptoms include hydrocephalus; hydranencephaly; diffuse clastic ischemic lesions and calcifications in the brain stem, basal ganglia, and spinal cord; glomeruloid vasculopathy in the brain and retinal vessels; and intrauterine death. In addition, patients also present with other symptoms such as polyhydramnios and fetal akinesia deformation sequence with muscular neurogenic atrophy. Prenatal ultrasound reveals ventriculomegaly, hydranencephaly, joint contractures in upper and lower limbs, cystic hygroma, and intrauterine death (Meyer et al. 2010. PubMed ID: 20206334; Lalonde et al. 2010. PubMed ID: 20518025; Soster et al. 2015. PubMed ID: 25131804).   

As proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome presents with variable and overlapping phenotypes, it can be difficult to diagnose by clinical manifestation and image studies only. An accurate molecular diagnosis is critical for treatment, prognosis, and prediction of recurrence risk as well as future family planning.

Genetics

FLVCR2-related proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is inherited in an autosomal recessive mannerPathogenic variants in FLVCR2 include missense, nonsense, splicing, small deletions and duplications, and large deletions (Human Gene Mutation Database; Thomas et al. 2010. PubMed ID: 20690116). Missense variants and truncating variants are equally common. No de novo variants have been reported.

FLVCR2 encodes feline leukemia virus subgroup c receptor 2, a transmembrane transporter. This receptor is hypothesized to be involved in regulation of growth, calcium exchange, and homeostasis (Meyer et al. 2010. PubMed ID: 20206334). A knock-out mice model showed Flvcr2 was essential for angiogenic sprouting in the brain, leading to vascular malformations. Brain hypovascularization was associated with hypoxia and tissue infarction, which eventually resulted in hydrocephalus and death of mice (Santander et al. 2020. PubMed ID: 32369453). FLVCR2 has been cited as a conditionally essential gene for growth of human tissue culture cells (Online Gene Essentiality, ogee.medgenius.info).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity of FLVCR2 in a large cohort of patients with FLVCR2-related disorder relevant phenotypes is unavailable in the literature, because most studies are case reports. However, analytical sensitivity should be high.

Testing Strategy

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

This test provides full coverage of all coding exons of the FLVCR2 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.

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 recommended for patients suspected to have FLVCR2-related proliferative vasculopathy and hydranencephaly-hydrocephaly syndromeTargeted testing is indicated for family members of patients who have a known pathogenic variant in FLVCR2. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in FLVCR2.

Gene

Official Gene Symbol OMIM ID
FLVCR2 610865
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Human Gene Mutation Database (Biobase).
  • Lalonde et al. 2010. PubMed ID: 20518025
  • Meyer et al. 2010. PubMed ID: 20206334
  • Santander et al. 2020. PubMed ID: 32369453
  • Soster et al. 2015. PubMed ID: 25131804
  • Thomas et al. 2010. PubMed ID: 20690116

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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