Congenital Limb Malformation Panel
Use
This test is intended for individuals with clinical or suspected diagnosis of congenital limb malformation. It also serves patients with abnormal prenatal ultrasound findings suggestive of a congenital limb malformation. The test aims to identify genetic mutations that may contribute to malformations in limb development, potentially facilitating early diagnosis and enabling more targeted interventions or genetic counseling as needed.
Special Instructions
Individuals ordering this test should ensure proper completion of clinical information and consider family testing options if applicable. Options for exome-wide CNV analysis are available as an add-on with additional cost, and STAT testing is also an option, which includes a surcharge. Testing can be ordered online or by completing a paper Test Requisition Form. The clinical feature checklist should be completed to aid in variant interpretation.
Limitations
The Congenital Limb Malformation Panel may not detect all genetic variations associated with limb malformations. It's crucial for healthcare providers to correlate test results with clinical information. The test is performed using NGS with CNV, which although comprehensive, may not identify certain structural variants, insertions, or other types of genetic alterations. Additionally, the turnaround time may be extended if additional analysis, such as reflex testing, is required based on the initial findings.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided