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
$900
Test Code: 1849
|
NGS/Del Dup Comprehensive
$1,100
Test Code: 1850
|
Test Details
Technical Information
Genes:
IMPAD1
Disease Groups:
Skeletal Dysplasias
MIM:
614078
Billing
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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.