Camptodactyly, tall stature, and hearing loss syndrome (CATSHL syndrome; MIM 610474) can be an autosomal dominant or autosomal recessive disorder caused by mutations in the FGFR3 gene. In addition to campodactyly, tall stature and hearing loss, developmental delay, microcephaly, scoliosis and pectus excavatum are relatively common findings. read more

Tests Available

By gene: FGFR3
Next Generation Sequencing
Test Code: 2316
Deletion / Duplication
Test Code: 2317
NGS/Del Dup Comprehensive
Test Code: 2318

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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