Prenatal Skeletal Dysplasia Panel

NY Approved

Test Overview

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

Test Details

Genes

AGPS, ALPL, ARSL (ARSE), BMP1, CEP120, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFITM5, IFT172, INPPL1, KIAA0586, LBR, LEPRE1(P3H1), LIFR, NEK1, PEX7, PLOD2, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TMEM38B, TRIP11, TRPV4, TTC21B, WDR34, WDR35

Conditions

  • Achondrogenesis
  • Achondroplasia (ACH)
  • Bruck syndrome
  • Campomelic Dysplasia (CD)
  • Chondrodysplasia Punctata (CDPX1 and CDPX2)
  • Fibrochondrogenesis
  • Frontometaphyseal dysplasia
  • Greenberg skeletal dysplasia
  • Hypochondroplasia (HCH)
  • Osteogenesis Imperfecta (OI)
  • Pseudoachondroplasia (PSACH)
  • Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN)
  • Short-Rib Thoracic Dysplasia (SRTD)
  • Spondylocostal dysostosis
  • Thanatophoric Dysplasia (TD)

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: 949
CPT Codes*: 81404x2, 81405x1, 81408x2, 81479x3
ABN Required: No
Turnaround Time**: 3 weeks
Preferred Specimen: 30 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 30 mg CVS | 5 µg DNA Concentration | POC or other fetal tissue
Minimum Specimen:

20 mL Amniotic Fluid | 20 mg CVS  

Samples below the minimum amounts may be accepted, please contact [email protected] in advance to review.  

*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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control. Note that if the submitted specimen requires cell culturing, this will delay the start of testing.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs