Catel-Manzke syndrome (CATMANS; MIM 616145) is an autosomal recessive disorder. Pierre Robin sequence and bilateral clinodactyly are the most common findings. Other features may include congenital heart defect, upslanting palpebral fissures, short nose with anteverted nares, thin eyebrows, low-set ears and short more

Tests Available

By gene: TGDS
Next Generation Sequencing
Test Code: 2012
Deletion / Duplication
Test Code: 2013
NGS/Del Dup Comprehensive
Test Code: 2014

Test Details

Technical Information
Disease Groups: 
Cardiovascular Disorders
Craniosynostosis and Craniofacial 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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