GJC2 Gene SPG44 NGS Genetic Test
Short Name: GJC2 SPG44 NGS
Also known as: GJC2 Gene Mutation Analysis, SPG44 Genetic Test, Hereditary Spastic Paraplegia Type 44 NGS Test
GJC2 Gene SPG44 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 Results are typically available 3 to 4 weeks after the sample is received by the laboratory. In some cases, additional time may be needed for Sanger validation of detected variants.. 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 primary purpose of the GJC2 Gene SPG44 NGS Genetic Test is to detect pathogenic variants in the GJC2 gene associated with SPG44. This test assists in confirming a clinical diagnosis, identifying carriers in family members, enabling prenatal planning, and providing prognostic information for affected individuals. It is also useful for excluding other forms of hereditary spastic paraplegia with overlapping symptoms.
- Test Code
- 4535
- ICD Code
- G11.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available 3 to 4 weeks after the sample is received by the laboratory. In some cases, additional time may be needed for Sanger validation of detected variants.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is required. However, it is important to provide a detailed clinical history and family pedigree to the genetic counselor. Please bring any previous medical records and imaging results, if available.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect a blood sample from a vein in your arm. The process takes less than 5 minutes. For FTA card collection, a few drops of blood from a finger prick will be applied to the card.
Report Delivery
You can resume normal activities immediately. There are no restrictions. The sample will be transported to the laboratory at ambient temperature. Results will be available in 3 to 4 weeks and can be accessed through our online portal or via email.
Timeline: Results are typically available 3 to 4 weeks after the sample is received by the laboratory. In some cases, additional time may be needed for Sanger validation of detected variants.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the GJC2 Gene SPG44 NGS Genetic Test is to detect pathogenic variants in the GJC2 gene associated with SPG44. This test assists in confirming a clinical diagnosis, identifying carriers in family members, enabling prenatal planning, and providing prognostic information for affected individuals. It is also useful for excluding other forms of hereditary spastic paraplegia with overlapping symptoms.
How to Prepare
- Use an EDTA vacutainer for blood collection.
- For FTA card, ensure the card is fully dried before packaging.
- Label the sample with patient name, date of birth, and collection date.
- Keep the sample at ambient temperature; do not refrigerate.
- Ship the sample within 24 hours of collection.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Patients presenting with progressive lower limb spasticity and family history suggestive of hereditary spastic paraplegia should consider genetic evaluation for GJC2 mutations."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Mislabeled sample
- Sample exposed to extreme temperatures
- Non-sterile or leaking container
Understanding Your Results
Positive - Pathogenic variant detected
Confirms diagnosis of SPG44. Indicates that the patient has a genetic change associated with the disorder. Further cascade testing of at-risk family members is recommended.
Negative - No pathogenic variant detected
Reduces the likelihood of GJC2-mediated SPG44, but does not completely rule out the condition if clinical suspicion remains high. Other genetic or acquired causes should be considered.
Variant of Uncertain Significance (VUS)
A genetic change was found whose clinical significance is not yet known. Further family studies or functional analyses may be required to clarify its role.
If you or a family member experience progressive muscle stiffness, weakness in the legs, difficulty walking, or any of the other symptoms listed, it is advisable to consult a neurologist or clinical geneticist. Early genetic testing can guide management and inform family planning decisions.
Limitations
- ⚠This test analyzes the GJC2 gene only and does not assess other genes associated with hereditary spastic paraplegia.
- ⚠Large genomic rearrangements may not be detected by NGS alone.
- ⚠Variants of uncertain significance may be reported and require further family segregation studies.
- ⚠Clinical correlation is essential; genetic findings should be interpreted in the context of symptoms and family history.
Risks & Considerations
- ●Minor bruising or bleeding at the venipuncture site
- ●Dizziness or light-headedness during blood collection
- ●Very low risk of infection (mitigated by sterile techniques)
- ●Potential psychological impact of receiving a genetic diagnosis
- ●Possibility of discovering unexpected genetic findings
Interfering Factors
- ●Extremely rare GC-rich regions may cause reduced sequencing coverage
- ●Sample quality issues such as hemolysis or degradation
- ●Presence of pseudogenes or homologous sequences may complicate variant analysis
Compare With Similar Tests
| Test | GJC2 Gene SPG44 NGS Genetic Test | Hereditary Spastic Paraplegia Panel | GJC2 Gene Single-Gene Sequencing | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | GJC2 Gene SPG44 NGS Genetic Test | A comprehensive NGS panel covering multiple genes associated with HSP, including GJC2. Offers a broader diagnostic yield compared to single-gene testing. | Specifically analyzes GJC2 via Sanger sequencing. May miss large deletions/duplications and is less efficient than NGS for heterozygous variants. | Analyzes all coding regions of the genome. Provides a wider scope but is more expensive and may identify incidental findings. |
Frequently Asked Questions
What is SPG44?
What does the GJC2 Gene SPG44 NGS Genetic Test detect?
Who should undergo this test?
Do I need to fast before the test?
What sample is needed?
How long does the test take?
What is the cost of the test?
Is home sample collection available?
Will I receive raw data files?
What does a negative result mean?
What is a variant of uncertain significance (VUS)?
How do I book this test?
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