Marshall-Smith syndrome (MRSHSS; MIM 602535) and Sotos syndrome 2 (SOTOS2; MIM 614753) are autosomal dominant disorders caused by mutations in the NFIX gene.  Marshall-Smith syndrome is characterized by accelerated linear growth and skeletal maturation, typical facial features, psychomotor delay, and respiratory insufficiency. Clinical findings in Sotos syndrome 2 are similar to Marshall-Smith more

Tests Available

By gene: NFIX
Next Generation Sequencing
Test Code: 1969
Deletion / Duplication
Test Code: 1970
NGS/Del Dup Comprehensive
Test Code: 1971

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Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
Neurological and Muscular Disorders
Craniosynostosis and Craniofacial Disorders
Skin, Tooth, Nail and Hair 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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