Limb Abnormalities and Reduction Defects Panel

Concurrent analysis of multiple genes associated with skeletal disorders involving limb malformations and reduction defects. 

NY Approved

Test Overview

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of slimb abnormalities
  • Genetic counseling

Test Details

Genes

ANKRD11, ARHGAP31, ARID1A, ARID1B, BHLHA9, BMP2, BMPR1B, CC2D2A, CDH3, CEP290, CHSY1, DLL4, DLX5, DOCK6, DPCD, DVL1, DVL3, DYNC1I1, EOGT, ESCO2, FGF10, FGF16, FGFR1, FGFR2, FGFR3, GDF5, GLI3, GNAS, HDAC4, HDAC8, HOXD13, IHH, KIF7, KMT2A (MLL), LMBR1, LRP4, MGP, MKS1, MYCN, NIPBL, NOG, NOTCH1, NSDHL, PHF6, PIGV, PTHLH, RAD21, RBM8A, RBPJ, RECQL4, ROR2, RPGRIP1L, SALL1, SALL4, SHH, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOX11, SOX9, TBX15, TBX3, TBX5, THPO, TP63, WNT10B, WNT3, WNT5A, WNT7A

Conditions

  • Adams-Oliver syndrome
  • Al-Awadi-Raas-Rothschild syndrome
  • Cenani-Lenz syndrome
  • CHILD syndrome
  • Ciliopathies
  • Coffin-Siris syndrome
  • Cornelia de Lange Syndrome
  • Cousin syndrome
  • Duane-Radial Ray syndrome
  • Ectrodactyly/Split Hand-Split Foot Malformation
  • Feingold Syndrome
  • Holt-Oram syndrome
  • Keutel syndrome
  • Lacrimo-Auriculo-Dental-Digital syndrome
  • Mabry syndrome
  • Multiple syndromes associated with pathogenic variants in the TP63 gene
  • Robert<span>&#39;</span>s syndrome
  • Robinow Syndrome
  • Rothmund-Thomson/RAPADILINO syndrome
  • Thrombocytopenioa with Absent Radii (TAR) syndrome and non-syndromic abnormalities
  • Townes-Brocks Syndrome
  • Ulnar-mammary syndrome
  • Wolff-Parkinson-White Syndrome

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Important Information

For the LMBR1 gene, the intronic ZRS region, which is a regulatory element for SHH gene expression, is included

Panel includes deletion/duplication testing for chromosomal region 10q24.32

Test Code: TA42
CPT Codes*: 81405x2, 81407x1, 81408x1, 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.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs