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Prenatal Skeletal Dysplasia Panel

New York
Approved


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

  • 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

20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC

Alternative Specimen

3 ug Extracted DNA

*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.