Price:
Rs. 17,850.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0147
Frequently Asked Questions (FAQ's):
What does the Smith-Lemli-Opitiz Syndrome (DHCR7) Gene Panel test detect at Metropolis Healthcare?
It detects pathogenic variants in the DHCR7 gene that cause disrupted cholesterol synthesis and related clinical features.
Who should undergo this test at Metropolis Healthcare?
Individuals with developmental delay, congenital anomalies, unexplained intellectual disability, or a family history of SLOS.
How does Metropolis Healthcare perform this test?
Through advanced Next-Generation Sequencing (NGS) for comprehensive mutation analysis.
Which sample type is required for testing at Metropolis Healthcare?
EDTA whole blood.
How long does Metropolis Healthcare take to release results?
Typically within 2–4 weeks, depending on complexity.
Is this test useful for prenatal or preconception planning?
Yes, Metropolis Healthcare supports carrier testing and informed reproductive decision-making.
Does Metropolis Healthcare offer genetic counselling related to this test?
Yes, expert counselling is available for interpretation and clinical guidance.
Can this test help differentiate similar developmental disorders?
Yes, NGS-based analysis improves diagnostic accuracy to distinguish SLOS from other syndromic conditions.