Chondrodysplasia with joint dislocations, GPAPP type (MIM 614078) is an autosomal recessive disorder characterized by short stature, brachydactyly, congenital joint dislocations, micrognathia, cleft palate, and facial dysmorphism. It is caused by loss-of-function mutations in the inositol monophosphatase domain-containing protein 1 (IMPAD1) more

Tests Available

By gene: IMPAD1
Sanger Sequencing
Test Code: 1848
Deletion / Duplication
Test Code: 1849
NGS/Del Dup Comprehensive
Test Code: 1850

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
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: 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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