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Skeletal Dysplasia

New York
Approved

Genes

ALPL, ARSL (ARSE), COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, DDR2, EBP, FGFR3, FLNB, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4

Conditions

  • Osteochondrodysplasias
  • Skeletal Dysplasia

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of skeletal dysplasia
  • Genetic counseling

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

TA43

CPT Codes*

81408x2, 81479x3

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | 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.

**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.

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