Limb Abnormalities and Reduction Defects Panel

New York
Approved


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

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

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of slimb abnormalities
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

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*

81404x2; 81405x1; 81407x1; 81408x1

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.

**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.