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) gene.read more

Tests Available

By gene: IMPAD1
Sanger Sequencing
$630
Test Code: 1848
Deletion / Duplication
$680
Test Code: 1849
Sanger/Del Dup Comprehensive
$1,210
Test Code: 1850

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Test Details

Technical Information
Genes: 
IMPAD1
Disease Groups: 
Skeletal Dysplasias
MIM: 
614078
Billing
Price: 
$630
CPT Codes: 
81479 x 1
Ordering
SKU:
1848
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)
Shipping: 

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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