Robinow syndrome is characterized by mesomelic limb shortening, macrocephaly, dysmorphic facial features (hypertelorism, midfacial hypoplasia, short nose with depressed nasal bridge and tented upper lip), hypoplastic external genitalia in males, and renal and vertebral anomalies.  It can be inherited in an autosomal recessive or dominant more

Tests Available

By gene: DVL1
Sanger Sequencing
Option 1: Full gene
Test Code: 2119
Sanger Sequencing
Option 2: Exon 14 only
Test Code: 2122
Sanger Sequencing
Option 3: Reflex to remaining exons
Test Code: 2123
Deletion / Duplication
Test Code: 2120
Sanger/Del Dup Comprehensive
Test Code: 2121

Related Panels
Robinow syndrome NGS panel (4 genes)
NGS $1,190
Del Dup $850
Comp $1,940

Test Details

Technical Information
Disease Groups: 
Limb Hypoplasia - Reduction Defects
Skeletal Dysplasias
CPT Codes: 
81479 x 1
Test Option: 
Full gene
Turnaround Time: 
Typically 1 to 2 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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