Number of Panel Genes: 

Kabuki syndrome is genetically and clinically heterogeneous developmental disorder. Clinical findings include developmental delay, distinct facial features, cleft lip and/or palate, postnatal growth retardation, genitourinary anomalies, and skeletal findings such as scoliosis and congenital hip more

Tests Available

5 Panel Genes: HNRNPK, KDM6A, KMT2D, RAP1A, RAP1B
Next Generation Sequencing
Test Code: 5427
Deletion / Duplication
Test Code: 5428
NGS/Del Dup Comprehensive
Test Code: 5429

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Cardiovascular Disorders
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
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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