This comprehensive NGS-based panel evaluates genes associated with Cornelia de Lange Syndrome (CdLS), a rare genetic disorder affecting growth, development, and multiple body systems. Metropolis Healthcare uses high-depth sequencing to detect pathogenic variants linked to both classic and atypical CdLS presentations. The test helps confirm diagnosis, guide clinical management, and support long-term care planning. A blood sample collected in an EDTA vial is required for analysis.
Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes:G0185
Frequently Asked Questions (FAQ's):
What does the Cornelia de Lange Syndrome Gene Panel include at Metropolis Healthcare?
It includes targeted sequencing of key genes known to cause classic and non-classic forms of CdLS.
How does Metropolis Healthcare perform this genetic test?
Metropolis Healthcare uses advanced NGS technology with detailed bioinformatic analysis for accurate variant detection.
Who should consider taking this test at Metropolis Healthcare?
Individuals with developmental delay, characteristic facial features, limb anomalies, or suspected CdLS may benefit.
What type of sample is needed for this CdLS panel at Metropolis Healthcare?
A blood sample collected in an EDTA tube is required for sequencing.
How can this test help in clinical management?
It confirms the genetic cause, supports individualized care planning, and guides monitoring for associated complications.
How long does Metropolis Healthcare take to provide results?
The typical turnaround time is 2–4 weeks depending on analysis complexity.
Can this test detect carriers of CdLS-related mutations?
Yes, it can identify carriers, which is valuable for family planning and counseling.
Is genetic counseling recommended after this test at Metropolis Healthcare?
Yes, counseling helps interpret the results and understand inheritance patterns and long-term implications.