DNA icon

Diaphanospondylodysostosis via the BMPER 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
8143 BMPER 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8143BMPER81479 81479,81479 $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

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


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Diaphanospondylodysostosis is a rare, lethal, congenital skeletal disorder characterized by small chest, multiple abnormal spinal segments, multicystic kidneys and dysmorphic facial features. Dysmorphic facial features include hypertelorism, epicanthal folds, depressed nasal bridge, short nose, webbed neck, and low-set ears (Funari et al. 2010). In a few cases, patients have polymicrogyria and trilobed liver. The majority of patients die during the neonatal period due to respiratory insufficiency (Vatanavicharn et al. 2007).


BMPER-related Diaphanospondylodysostosis is inherited in an autosomal recessive manner. The BMPER protein is a member of the TGF-b superfamily and plays a key role in BMP (bone morphogenesis protein) signaling pathways. More than 10 unique BMPER pathogenic variants have been reported: missense (30%), nonsense (46%), splicing (15%) and one small indel. No large deletions/duplications have been reported (Human Gene Mutation Database; Funari et al. 2010; Kuchinskaya et al. 2016).

Clinical Sensitivity - Sequencing with CNV PGxome

Due to limited publications, clinical sensitivity is currently unknown. Analytical sensitivity should be high, because all reported pathogenic variants are detectable by sequencing (Human Gene Mutation Database; Funari et al. 2010; Kuchinskaya et al. 2016).

Testing Strategy

This test provides full coverage of all coding exons of the BMPER 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 Diaphanospondylodysostosis, ischiospinal dysostosis and the family members of patients who have known BMPER pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in BMPER.


Official Gene Symbol OMIM ID
BMPER 608699
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Diaphanospondylodysostosis AR 608022


  • Funari V.A. et al. 2010. American Journal of Human Genetics. 87: 532-7. PubMed ID: 20869035
  • Human Gene Mutation Database (Bio-base).
  • Kuchinskaya E. et al. 2016. Orphanet Journal of Rare Diseases. 11: 1. PubMed ID: 26728142
  • Vatanavicharn N. et al. 2007. American Journal of Medical Genetics. 143A: 2292-302. PubMed ID: 17764081


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... ×


An error has occurred while calculating the price. Please try again or contact up for assistance.

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: loading
Copy Text to Clipboard