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TARP Syndrome via the RBM10 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
8029 RBM10 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8029RBM1081479 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.


Genetic Counselors


  • Renee Bend, PhD

Clinical Features and Genetics

Clinical Features

Intellectual Disability (ID) is a heterogeneous group of neurodevelopmental disorders, characterized by congenital limitation in intellectual functioning (intelligence quotient, IQ ≤70), and adaptive behavior. It is diagnosed in ~1–3% of the population before 18 years of age (American Association of Intellectual and Developmental Disabilities, AAIDD). X-linked Intellectual Disability (XLID) contributes almost 10-15% of intellectual disability (ID) cases in males.

TARP syndrome (TARPS), also known as Robin’s syndrome, is a severe form of X-linked syndromic ID that often leads to early lethality due to liver failure, kidney failure, hyaline membrane disease, and respiratory failure (Johnston et al. 2014. PubMed ID: 24259342). The clinical features of TARP syndrome often include Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava. Affected individuals have been reported with variable multiple congenital anomalies, such as abnormal corpus callosum, cerebellar vermis hypoplasia, developmental delay, hypotonia, lethargy, seizures, failure to thrive, and abnormalities of the head, neck, respiratory, cardiovascular, gastrointestinal, genitourinary and skeletal systems (Johnston et al. 2010. PubMed ID: 20451169; Johnston et al. 2014. PubMed ID: 24259342).


TARP syndrome is an X-linked disorder caused by pathogenic variants in RNA-binding motif protein 10 gene (RBM10). Along with de novo events, there are also reports of maternal heterozygosity and maternal mosaicism (Johnston et al. 2014. PubMed ID: 24259342). RBM10 maps to chromosome Xp11.3 and consists of 23 coding exons that encode the 930 amino acid polypeptide RBM10. RBM10 is a member of RNA-binding motif (RBM) family and is predicted to include one zinc finger motif, one G-patch domain, and two RNA recognition motif (RRM) domains (Johnston et al. 2010. PubMed ID: 20451169). To date, the mutational reports of RBM10 include small frameshift deletions, nonsense and missense variants and a large deletion (Human Gene Mutation Database). The disease transmission pattern is X-linked recessive.

Clinical Sensitivity - Sequencing with CNV PGxome

This test is predicted to detect pathogenic variants in <0.1% of individuals with intellectual disability (ID). In this context, it is important to note that although pathological variants over 800 genes have been identified in individuals with ID, a genetic diagnosis is still lacking in most cases due to extreme clinical and genetic heterogeneity of the condition (Vissers et al. 2016. PubMed ID: 26503795). Analytical sensitivity should be high because most pathogenic variants reported within this gene to date are detectable by sequencing. To date, only one gross deletion involving RBM10 has been reported.

Testing Strategy

This test provides full coverage of all coding exons of the RBM10 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

This test is primarily implicated for the patients with intellectual disabilities who are negative for any kind of cytogenetic abnormalities, copy number variations, Fragile-X syndrome, and also for the family members of the patients who have RBM10 pathogenic variants. Prenatal diagnosis is possible, if the genetic diagnosis has been firmly established in an affected family member.


Official Gene Symbol OMIM ID
RBM10 300080
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
TARP Syndrome XL 311900


  • Human Gene Mutation Database (Bio-base).
  • Johnston et al. 2010. PubMed ID: 20451169
  • Johnston et al. 2014. PubMed ID: 24259342
  • Vissers et al. 2016. PubMed ID: 26503795


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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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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