Stuve-Wiedemann syndrome (STWS; MIM 601559) is an autosomal recessive, frequently lethal disorder characterized by postnatal short stature, congenital bowing of the long bones and dysautonomia. The bones of the lower extremities are usually more affected than the bones of the upper extremities. The long bones display cortical thickening and an abnormal trabecular pattern. The metaphyses are wide, flared, rarefied and more

Tests Available

By gene: LIFR
Next Generation Sequencing
Test Code: 1338
Deletion / Duplication
Test Code: 1339
NGS/Del Dup Comprehensive
Test Code: 1667

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
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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