Mental retardation, X-linked, syndromic, Snyder-Robinson type (MRXSSR; MIM 309583) also known as Snyder-Robinson mental retardation syndrome (SRS) is an X-linked recessive disorder. It is characterized mainly by neurological, skeletal and distinctive facial features. The onset of developmental delay and intellectual disability is in early childhood. SRS is typically associated with hypotonia and unsteady more

Tests Available

By gene: SMS
Next Generation Sequencing
Test Code: 2440
Deletion / Duplication
Test Code: 2441
NGS/Del Dup Comprehensive
Test Code: 2442

Test Details

Technical Information
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
Osteogenesis Imperfecta and Low Bone Density Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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