Prenatal Skeletal Dysplasia Panel
New York
Approved
Genes
Conditions
- Chondrodysplasia Punctata (CDPX1 and CDPX2)
- Achondrogenesis
- Achondroplasia (ACH)
- Hypochondroplasia (HCH)
- Osteogenesis Imperfecta (OI)
- Pseudoachondroplasia (PSACH)
- Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN)
- Short-Rib Thoracic Dysplasia (SRTD)
- Thanatophoric Dysplasia (TD)
- Fibrochondrogenesis
- Spondylocostal dysostosis
- Frontometaphyseal dysplasia
- Greenberg skeletal dysplasia
- Bruck syndrome
- Campomelic Dysplasia (CD)
Clinical Utility
- Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a skeletal dysplasia
- Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
- Distinguish between causes and forms of skeletal dysplasias
- Genetic counseling, especially regarding recurrence risk
Lab Method
- Next-Gen Sequencing
- Deletion/Duplication Analysis
Test Code
949
CPT Codes*
81404x2, 81405x1, 81408x2
ABN Required
No
Turnaround Time**
3 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