FLNA Gene Melnick-Needles syndrome NGS Genetic Test
Short Name: FLNA Gene Melnick-Needles NGS Test
Also known as: Melnick-Needles syndrome NGS test, FLNA gene sequencing, Filamin A gene mutation test
FLNA Gene Melnick-Needles syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Variant confirmation by Sanger sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic variants in the FLNA gene that are associated with Melnick-Needles syndrome. It helps confirm the clinical diagnosis, supports treatment and surveillance decisions, and provides important information for family members and reproductive counseling.
- Test Code
- 4221
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Variant confirmation by Sanger sequencing
Sample Collection
A genetic counseling session is required before testing to draw a pedigree chart and record clinical history. The doctor will discuss the benefits, risks, and limitations of the test. Please sign informed consent if required by the laboratory or state regulations.
Method: Blood draw / FTA card spot / DNA sample submission
Laboratory Analysis
A small blood sample is collected by a trained phlebotomist. For FTA card collection, one drop of blood is spotted onto the card. The procedure is quick and minimally painful.
Report Delivery
After collection, the sample is transported to the laboratory. You can continue your normal activities. Results are usually available in 3-4 weeks.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the FLNA gene that are associated with Melnick-Needles syndrome. It helps confirm the clinical diagnosis, supports treatment and surveillance decisions, and provides important information for family members and reproductive counseling.
How to Prepare
- No fasting is required for this genetic test
- Regular medications may be continued unless your doctor advises otherwise
- For a blood sample, an EDTA vacutainer is used; for FTA card, a few drops of blood are spotted
- The sample should be labeled correctly with patient name and date of collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic confirmation is important for Melnick-Needles syndrome because clinical signs overlap with other skeletal disorders. A molecular diagnosis enables targeted surveillance, family counseling, and recurrence-risk assessment."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient quantity of blood or extracted DNA
- Unlabeled or mislabeled sample
- Sample received in an improper container or showing signs of microbial contamination
Understanding Your Results
Pathogenic/Likely pathogenic variant detected
The result is positive for Melnick-Needles syndrome or an FLNA-related disorder.
Clinical recommendation: Discuss with a clinical geneticist, arrange appropriate surveillance, and offer genetic counseling to at-risk family members.
Variant of uncertain significance (VUS)
The clinical significance of the variant is not yet known.
Clinical recommendation: Further family segregation studies and additional testing may be needed.
No pathogenic variant detected
Negative result; no FLNA mutation was found.
Clinical recommendation: Other genetic or non-genetic causes should be considered in consultation with your doctor.
Consult your doctor if you or your child has skeletal deformities, failure to thrive, breathing difficulty, hearing problems, unusual facial features, or a known family history of FLNA-related disease. Also consult before genetic testing to understand the implications of the results.
Limitations
- ⚠This test is targeted to the FLNA gene and does not analyze other genes associated with skeletal dysplasias unless a broader panel is requested
- ⚠Large deletions or duplications, deep intronic mutations, and repeat expansions may not be detected by this NGS test
- ⚠A negative result does not exclude all possible causes of the patient's symptoms
- ⚠Variants of uncertain significance may need additional family studies and clinical correlation
Risks & Considerations
- ●Minimal pain or bruising at the blood draw site
- ●Dizziness or fainting during blood collection
- ●Emotional distress after receiving a positive result
- ●Incidental or uncertain findings that may require further investigation
Interfering Factors
- ●Low DNA quantity or quality
- ●Recent allogeneic blood transfusion may complicate interpretation
- ●Prolonged sample storage may lead to DNA degradation
- ●PCR inhibitors in the extracted sample
Compare With Similar Tests
| Test | FLNA Gene Melnick-Needles syndrome NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | FLNA Gene Melnick-Needles syndrome NGS Genetic Test |
Frequently Asked Questions
What is the FLNA Gene Melnick-Needles syndrome NGS genetic test?
What is the cost of this test?
What type of sample is required?
Is fasting required for this genetic test?
What is Melnick-Needles syndrome?
What are the common symptoms of Melnick-Needles syndrome?
How accurate is NGS for detecting FLNA mutations?
How long will I have to wait for the test report?
Why are FASTQ and VCF files important?
Is home sample collection available?
Do I need genetic counseling before the test?
What happens if the test finds a mutation?
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