RPL10-Associated Autism Spectrum Disorder: RPL10 Gene Deletion/Duplication

Condition Description

The RPL10 gene (Xq28, previously known as the QM gene) encodes ribosomal protein L10, a highly conserved component of the large subunit of the ribosome that plays an important role in protein synthesis.  It is located at Xq28, which is within a candidate region for autism spectrum disorders (ASD).  Klauck et al. (2006) reported that different missense mutations in the RPL10 gene were identified in two sets of brothers with ASD from two unrelated families.  Both of these mutations were located in exon 7 at the C-terminal end of the gene.

For patients with suspected RPL10-Associated ASD, sequence analysis is recommended as the first step in mutation identification. For patients in whom mutations are not identified by full gene sequencing, deletion/duplication analysis is appropriate.

  • Klauck et al. (2006). Mol Psychiatry 11, 1073-1084.

Genes (1)


This test is indicated for:
  • Confirmation of a clinical diagnosis of RPL10-Associated ASD in an individual in whom sequence analysis was negative.
  • Carrier testing in adults with a family history of RPL10-Associated ASD in whom sequence analysis was negative.


DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.


Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
  • Sequence analysis of the RPL10 gene is available and is required before deletion/duplication analysis.  
  • Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
  • Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.
  • X-Linked Intellectual Disability panels are available for 30, 60, and 90 genes.

How to Order