TECPR2 Gene SPG49 NGS Genetic Test
Short Name: TECPR2 SPG49 NGS Test
Also known as: TECPR2 Gene Mutation Test, SPG49 Genetic Test, TECPR2 Gene Sequencing Test, Hereditary Spastic Paraplegia Type 49 NGS Panel
TECPR2 Gene SPG49 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 Reports are usually available in 3 to 4 weeks after the sample is received. The report includes clinical interpretation, and raw data files are shared as per DNA Labs India policy.. 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 identify pathogenic or likely pathogenic variants in the TECPR2 gene that are associated with SPG49. It helps confirm a clinical suspicion, supports disease management, and provides information for recurrence-risk assessment and genetic counseling in affected families.
- Test Code
- 4544
- ICD Code
- G11.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually available in 3 to 4 weeks after the sample is received. The report includes clinical interpretation, and raw data files are shared as per DNA Labs India policy.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A genetic counseling session is recommended before testing to document the clinical history and draw a family pedigree. No fasting is required. Please carry any previous neurological or genetic evaluation records.
Method: Peripheral blood draw or FTA card spot; extracted DNA samples accepted
Laboratory Analysis
A trained phlebotomist will collect a blood sample in an EDTA tube, or a blood spot may be collected on an FTA card. Extracted DNA samples are also accepted.
Report Delivery
No specific precautions are required after sample collection. You may resume normal activities immediately. The sample will be transported to the laboratory for NGS analysis.
Timeline: Reports are usually available in 3 to 4 weeks after the sample is received. The report includes clinical interpretation, and raw data files are shared as per DNA Labs India policy.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the TECPR2 gene that are associated with SPG49. It helps confirm a clinical suspicion, supports disease management, and provides information for recurrence-risk assessment and genetic counseling in affected families.
How to Prepare
- No fasting is needed for this test
- Blood sample should be collected in an EDTA vacutainer
- FTA card blood spot should be allowed to dry fully before sealing
- Label the sample clearly with patient name and ID
- Maintain sample at ambient temperature during transport
- Inform the laboratory if the patient had a recent blood transfusion
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SPG49 should be done after a detailed clinical evaluation. Pre-test genetic counseling helps clarify the indications, limitations, and possible outcomes of the test for the family."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient quantity of blood or DNA
- Mislabeled or unlabeled sample
- Sample received in the wrong container
- FTA card damaged, wet, or visibly contaminated
Understanding Your Results
No pathogenic variant detected
No clinically significant TECPR2 variant identified. SPG49 is less likely but not completely excluded.
Pathogenic variant detected
A molecular diagnosis of SPG49 is confirmed if the variant correlates with the clinical phenotype.
Likely pathogenic variant detected
Highly suggestive of pathogenicity; additional family or functional evidence may be useful.
Variant of uncertain significance (VUS)
Cannot be used to confirm or exclude SPG49; segregation analysis and additional testing may be recommended.
Carrier state
For autosomal recessive SPG49, one heterozygous variant indicates carrier status. Genetic counseling is advised.
Consult a neurologist, clinical geneticist, or obstetrician-gynecologist if you or a family member has signs of SPG49, a known TECPR2 variant, or an unexplained hereditary spastic paraplegia syndrome.
Limitations
- ⚠Targeted NGS may not detect large deletions/duplications, deep intronic variants, or repeat expansions
- ⚠Not all variants can be classified as pathogenic; variants of uncertain significance may require further testing
- ⚠A negative result does not completely exclude SPG49 or other hereditary spastic paraplegia conditions
- ⚠Results should always be interpreted in the context of clinical and family history by a qualified specialist
Risks & Considerations
- ●Blood draw may cause minor pain, bruising, or rarely infection
- ●Genetic test results may have psychological or family implications
- ●Findings of uncertain significance may require additional family testing
Interfering Factors
- ●Presence of hematological malignancy or recent blood transfusion may affect DNA quality
- ●Variants in GC-rich regions may have lower sequencing coverage
- ●Sample contamination or sample mix-up can compromise results
- ●Concurrent mutations in other hereditary spastic paraplegia genes may not be identified by this targeted test
Frequently Asked Questions
What is the TECPR2 Gene SPG49 NGS Genetic Test?
What is SPG49?
What are the common symptoms of SPG49?
What is the cost of this test?
Which sample is needed for the test?
Do I need fasting before the test?
How long does the report take?
Is home sample collection available?
Will I receive raw data files?
Who should take this test?
Why is genetic counseling required before the test?
How are genetic test results interpreted?
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