Genitopatellar syndrome (GTPTS; MIM 606170) is a rare autosomal dominant disorder characterized by hypoplastic or absent patella and genital abnormalities.  Other common features include microcephaly, mental retardation, agenesis of the corpus callosum, joint contractures, club feet, renal anomalies and coarse facial features.  Cardiac defects are seen in some patients.  GTPTS is caused by mutations in KAT6B, which encodes lysine acetyltransferase 6B, aread more

Tests Available

By gene: KAT6B
Sanger Sequencing
Test Code: 1799
Deletion / Duplication
Test Code: 1800
Sanger/Del Dup Comprehensive
Test Code: 1801

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
Neurological and Muscular Disorders
CPT Codes: 
81479 x 1
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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