FAT1 Gene Facioscapulohumeral dystrophy-like phenotype, FAT1 related NGS Genetic Test
Short Name: FAT1 Gene FSHD-like Phenotype NGS Test
Also known as: FSHD-like Phenotype, FAT1-Related Muscular Dystrophy
FAT1 Gene Facioscapulohumeral dystrophy-like phenotype, FAT1 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt. 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
To identify pathogenic mutations in the FAT1 gene using next-generation sequencing for accurate diagnosis of FSHD-like phenotypes, aiding in clinical management, genetic counseling, and family risk assessment.
- Test Code
- 1612
- 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
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Ensure proper identification of patient. Discuss family history and symptoms. Obtain informed consent for genetic testing.
Method: Venipuncture or Saliva Collection
Laboratory Analysis
Use sterile equipment for blood draw or saliva collection. Follow standard phlebotomy procedures. Label samples correctly.
Report Delivery
Store samples at ambient room temperature. Transport to laboratory within specified stability period. Document collection details.
Timeline: 3 to 4 Weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the FAT1 gene using next-generation sequencing for accurate diagnosis of FSHD-like phenotypes, aiding in clinical management, genetic counseling, and family risk assessment.
How to Prepare
- For blood sample: use EDTA tube and avoid hemolysis.
- For saliva sample: use provided kit and avoid eating/drinking 30 minutes prior.
- For FTA card: apply one drop of blood and air-dry completely.
- Ensure proper packaging and labeling with patient details.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a neurologist, I recommend genetic testing for FAT1 gene mutations to accurately diagnose FSHD-like phenotypes, which helps in tailored management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Incorrect sample type or container
- Insufficient sample volume
- Missing patient identification or consent
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of FAT1 gene-related FSHD-like phenotype. Recommend clinical management and genetic counseling.
Action: Consult neurologist or geneticist for further care.
Variant of uncertain significance
Further testing or family studies may be needed. Clinical correlation is essential.
Action: Follow-up with healthcare provider.
No pathogenic variants detected
Rules out FAT1 gene mutations as cause. Consider other genetic or non-genetic etiologies.
Action: Re-evaluate symptoms or pursue alternative tests.
Consult a neurologist or geneticist if symptoms such as progressive muscle weakness, facial drooping, or shoulder girdle atrophy are present, especially with a family history of similar conditions.
Limitations
- ⚠May not detect all possible genetic variants due to technical limitations
- ⚠Results require correlation with clinical findings
- ⚠Cannot predict disease severity or progression with certainty
- ⚠Genetic counseling is essential for accurate interpretation
Risks & Considerations
- ●Minor bruising or discomfort at blood draw site
- ●Rare risk of infection
- ●Psychological impact of genetic results; counseling recommended
Interfering Factors
- ●Sample contamination during collection or transport
- ●Insufficient DNA quantity or quality
- ●Use of improper collection containers
- ●Recent blood transfusion affecting DNA integrity
Compare With Similar Tests
| Test | FAT1 Gene Facioscapulohumeral dystrophy-like phenotype, FAT1 related NGS Genetic Test | FSHD Genetic Test (DUX4) | Muscular Dystrophy Gene Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | FAT1 Gene Facioscapulohumeral dystrophy-like phenotype, FAT1 related NGS Genetic Test |
Frequently Asked Questions
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