Limb Abnormalities and Reduction Defects Panel
New York
Approved
Genes
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>'</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
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*
81405x2, 81407x1, 81408x1, 81479x3
ABN Required
No
Turnaround Time**
4 weeks
Preferred Specimen
Alternative Specimen
*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.
Test Documents
Billing
Targeted Variant Testing