X-linked Intellectual Disability via the RPL10 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
10035 RPL10 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10035RPL1081479 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.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

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

For Sanger Sequencing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

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 ID cases in males.

Deficiency of ribosomal protein 10 (RPL10) leads to a syndromic form of ID, known as Mental Retardation, X-linked syndromic 35 (MRXS35). The clinical features of RPL10-related ribosomopathy are variable and may include (but may not be limited to) delayed psychomotor development, delayed or absent speech, intellectual disability, seizures, autism, short stature, poor growth, premature birth, muscular hypotonia, gastroesophageal reflux disease, cardiac and genitourinary anomalies, abnormalities of the head, neck (including dysmorphic features and progressive microcephaly) and skeletal systems (Brooks et al. 2014. PubMed ID: 25316788; Thevenon et al. 2015. PubMed ID: 25846674; Zanni et al. 2015. PubMed ID: 26290468; Bourque et al. 2017. PubMed ID: 29066376; Chiocchetti et al. 2011. PubMed ID: 21567917). Unaffected carrier females have been reported with favorably, fully skewed X-inactivation of the pathogenic variant-bearing X chromosomes (Brooks et al. 2014. PubMed ID: 25316788).

Genetics

Pathogenic variants in human ribosomal protein 10 gene (RPL10) lead to MRXS35. RPL10 maps to chromosome Xq28 and consists of 6 coding exons that translate a 214 amino acid polypeptide RPL10, a highly conserved component of the large (60S) ribosome subunit that plays an essential role in protein synthesis. Combined genetic, functional, and biochemical assays suggest that pathogenic variants in RPL10 can potentially leads to defects in bulk translation and increased apoptosis in the brain; thereby causing syndromic central nervous system defects (Brooks et al. 2014. PubMed ID: 25316788). To date, only five missense variants have been reported in the human RPL10 gene and there is no report of any gross deletion/duplication that includes RPL10 (Human gene Mutation database). The disease transmission pattern is primarily 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 all pathogenic variants reported within this gene to date are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the RPL10 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

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 RPL10 pathogenic variants. Prenatal diagnosis is possible, if the genetic diagnosis has been firmly established in an affected family member.

Gene

Official Gene Symbol OMIM ID
RPL10 312173
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Mental Retardation, X-linked, Syndromic, 35 XL 300998

Citations

  • Bourque et al. 2017. PubMed ID: 29066376
  • Brooks et al. 2014. PubMed ID: 25316788
  • Chiocchetti et al. 2011. PubMed ID: 21567917
  • Human Gene Mutation Database (Bio-base).
  • Thevenon et al. 2015. PubMed ID: 25846674
  • Vissers et al. 2016. PubMed ID: 26503795
  • Zanni et al. 2015. PubMed ID: 26290468

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.

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

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ORDER OPTIONS

View Ordering Instructions

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.

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