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Hyaline Fibromatosis Syndrome via the ANTXR2 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
ANTXR2 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8093ANTXR281479 81479,81479 $990 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 platform).

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

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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


  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Hyaline Fibromatosis Syndrome (also called Inherited Systemic Hyaline) is abnormal hyaline deposition in subcutaneous tissue. The disease is characterized by skin nodules, gingival hypertrophy, progressive joint contractures, and severe pain with movement during the first few years of life. Children with the severe form (previously called infantile systemic hyalinosis) often die in early childhood; some with a milder form (previously called juvenile hyaline fibromatosis) can survive into adulthood. The recurrent skin lesions usually occur on the hands, scalp, and ears and around the nose (Hank et al. 2003; Shieh et al. 2013).


Hyaline Fibromatosis Syndrome is inherited in an autosomal recessive manner. ANTXR2 protein coded by ANTXR2 (also called Capillary Morphogenesis Gene 2) is a receptor for anthrax toxin and plays a role in basement membrane matrix assembly and endothelial cell morphogenesis. ~ 40 unique pathogenic variants have been reported. They are: missense (42%), nonsense (8%), splicing (22%), small deletion/duplication (22%), and large deletion (6%) (Hank et al. 2003; Shieh et al. 2013, Deuquet et al. 2011; Denadai et al. 2012).

Clinical Sensitivity - Sequencing with CNV PGxome

ANTXR2 pathogenic variants were identified in 17 out of 18 studied families affected with Hyaline Fibromatosis Syndrome (Hank et al. 2003). Only two large deletions have been reported (Denadai et al. 2012; Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the ANTXR2 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 Hyaline Fibromatosis Syndrome and the family members of patients who have known ANTXR2 pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ANTXR2.


Official Gene Symbol OMIM ID
ANTXR2 608041
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Hyaline Fibromatosis Syndrome AR 228600


  • Denadai R, Raposo-Amaral CE, Bertola D, Kim C, Alonso N, Hart T, Han S, Stelini RF, Buzzo CL, Raposo-Amaral CA, Hart PS. 2012. Identification of 2 Novel ANTXR2 Mutations in Patients With Hyaline Fibromatosis Syndrome and Proposal of a Modified Grading System. Am J Med Genet A 0: 732742. PubMed ID: 22383261
  • Deuquet J, Lausch E, Guex N, Abrami L, Salvi S, Lakkaraju A, Ramirez MCM, Martignetti JA, Rokicki D, Bonafe L, Superti-Furga A, Goot FG van der. 2011. Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. EMBO Mol Med 3: 208221. PubMed ID: 21328543
  • Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N. 2003. Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis. Am J Hum Genet 73: 791800. PubMed ID: 14508707
  • Human Gene Mutation Database (Bio-base).
  • Shieh JT, Hoyme HE, Arbour LT. 2013. Hyalinosis, Inherited Systemic. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301698


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

No Additional Test Options are available for this test.

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