SMAD4 Gene Myhre syndrome NGS Genetic Test
Short Name: SMAD4 NGS Test
Also known as: SMAD4 Gene Sequencing, Myhre Syndrome Genetic Test, SMAD4 Mutation Analysis
SMAD4 Gene Myhre syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 weeks from the date of sample receipt. In some cases, additional time may be required for variant confirmation or family studies.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The primary purpose of this NGS genetic test is to detect pathogenic variants in the SMAD4 gene that cause Myhre syndrome. It is indicated for individuals presenting with clinical features suggestive of the condition, for confirmation of diagnosis, and for family members at risk. The test aids in differentiating Myhre syndrome from other overlapping genetic disorders, guiding medical management, and providing reproductive risk assessment for families.
- Test Code
- 5863
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks from the date of sample receipt. In some cases, additional time may be required for variant confirmation or family studies.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing for variant confirmation
Sample Collection
No special preparation is required. A genetic counseling session is recommended to discuss the purpose, implications, and potential outcomes of the test. Please bring any relevant medical records and family history information.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist. For FTA card collection, a simple fingerstick will be performed. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You may resume normal activities immediately. The sample will be transported to the laboratory for analysis.
Timeline: Reports are typically delivered within 3 to 4 weeks from the date of sample receipt. In some cases, additional time may be required for variant confirmation or family studies.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to detect pathogenic variants in the SMAD4 gene that cause Myhre syndrome. It is indicated for individuals presenting with clinical features suggestive of the condition, for confirmation of diagnosis, and for family members at risk. The test aids in differentiating Myhre syndrome from other overlapping genetic disorders, guiding medical management, and providing reproductive risk assessment for families.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or FTA card.
- Label the sample with patient name, date of birth, and collection date.
- If using FTA card, allow the blood spot to dry completely before sealing in the provided pouch.
- Maintain sample at ambient temperature during transport.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Myhre syndrome is a rare multisystem disorder with variable expressivity. Early molecular confirmation via NGS is crucial for appropriate surveillance and management of cardiac, respiratory, and skeletal complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper temperature control
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Myhre syndrome. Genetic counseling and family screening recommended.
Likely pathogenic variant detected
Highly suggestive of disease; further evidence may be needed. Clinical correlation advised.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity. Additional testing of family members may help clarify.
No pathogenic variant detected
No disease-causing mutation identified in SMAD4. Consider other genetic causes if symptoms persist.
Consult a clinical geneticist or pediatrician if you or your child exhibits features suggestive of Myhre syndrome, such as short stature, skeletal anomalies, heart defects, or developmental delay. Early diagnosis can facilitate timely management and surveillance.
Limitations
- ⚠NGS may not detect large deletions/duplications in SMAD4; additional MLPA may be required if clinically indicated.
- ⚠Variants of uncertain significance (VUS) may be reported; further familial segregation studies may be needed.
- ⚠This test does not assess other genes associated with similar phenotypes unless a multi-gene panel is requested.
- ⚠Results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Fainting or dizziness during blood collection (rare)
- ●Psychological impact of receiving genetic results
- ●Potential for incidental findings (unrelated to the test purpose)
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare genetic variants in non-coding regions not covered by NGS
Compare With Similar Tests
| Test | SMAD4 Gene Myhre syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Sanger Sequencing | MLPA for SMAD4 |
|---|---|---|---|---|
| Comparison | SMAD4 Gene Myhre syndrome NGS Genetic Test | WES analyzes all coding regions of the genome, whereas this targeted NGS test focuses solely on the SMAD4 gene. WES is more comprehensive but costlier and may identify incidental findings. | Sanger sequencing is used to confirm specific variants identified by NGS. It is not suitable for initial screening of large genes due to lower throughput. | MLPA detects large deletions/duplications in SMAD4, which NGS may miss. It is complementary to NGS. |
Frequently Asked Questions
What is the cost of the SMAD4 Gene Myhre Syndrome NGS Genetic Test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Will I receive raw data files?
What is Myhre syndrome?
Who should consider this test?
Is genetic counseling included?
Can this test be done on children?
Are there any risks associated with the test?
Is home sample collection available?
What does a negative result mean?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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