Chondrodysplasia Punctata Panel
New York
Approved
Genes
Conditions
- Chondrodysplasia Punctata (CDPX1 and CDPX2)
- CK Syndrome
- Vitamin K-dependent Coagulation Factor Deficiency
- Rhizomelic chondrodysplasia punctata (RCDP)
- Keutel syndrome
- CHILD syndrome
Clinical Utility
- Diagnosis in a patient based on clinical or radiographic findings suggestive of a skeletal dysplasia
- Diagnosis for known familial pathogenic variant(s)
- Distinguish between causes and forms of skeletal dysplasias
- Genetic counseling, especially regarding recurrence risk
Lab Method
- Next-Gen Sequencing
- Deletion/Duplication Analysis
Test Code
J804
CPT Codes*
81479x1
ABN Required
No
Turnaround Time**
4 weeks
Preferred Specimen
Alternative Specimen
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.
Test Documents
Billing
Targeted Variant Testing