PLP1 Gene SPG2 NGS Genetic Test
Short Name: PLP1 SPG2 NGS
Also known as: SPG2 Genetic Test, PLP1 Gene Mutation Analysis, Hereditary Spastic Paraplegia Type 2 NGS
PLP1 Gene SPG2 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 typically delivered within 3 to 4 weeks after the sample is received at our 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 confirm a clinical diagnosis of hereditary spastic paraplegia type 2 (SPG2) by identifying pathogenic mutations in the PLP1 gene. It is also used for carrier testing, early presymptomatic diagnosis in at-risk family members, and reproductive planning. The NGS approach provides a comprehensive and definitive genetic result that guides patient management, surveillance, and genetic counselling.
- Test Code
- 4522
- ICD Code
- G11.4
- 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 after the sample is received at our laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. Please ensure you have a valid doctor's referral if applicable. Bring any previous medical records or imaging reports related to your symptoms.
Method: Peripheral blood draw or FTA card spot
Laboratory Analysis
A trained phlebotomist will collect a blood sample from a vein in your arm. The procedure takes only a few minutes. If using an FTA card, a small drop of blood from a finger prick will be collected onto the card.
Report Delivery
You may resume normal activities immediately. There are no activity restrictions after the sample collection.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample is received at our laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of hereditary spastic paraplegia type 2 (SPG2) by identifying pathogenic mutations in the PLP1 gene. It is also used for carrier testing, early presymptomatic diagnosis in at-risk family members, and reproductive planning. The NGS approach provides a comprehensive and definitive genetic result that guides patient management, surveillance, and genetic counselling.
How to Prepare
- Use EDTA vacutainer for blood collection (2-3 ml for adults, 1-2 ml for children).
- For FTA card, allow the blood spot to dry completely before packaging.
- Label the sample tube/card with patient name, date of birth, and date of collection.
- Ship the sample in a leak-proof container to DNA Labs India within 48 hours.
- Samples should be stored at room temperature (15-30°C) and protected from direct sunlight.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SPG2 is essential for accurate diagnosis and reproductive planning. The PLP1 gene NGS analysis provides comprehensive information that helps guide clinical management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Incorrectly labelled or unlabelled sample
- Sample received after more than 72 hours at room temperature without refrigeration
- FTA card with insufficient blood spot or double-spotting
- Suspected contamination or leakage during transport
Understanding Your Results
Pathogenic variant detected (heterozygous)
Confirms the diagnosis of SPG2 in an autosomal dominant pattern. Genetic counselling and family testing are recommended.
Pathogenic variant detected (homozygous/compound heterozygous)
Confirms SPG2 in an autosomal recessive pattern (rare). Family studies and recurrence risk assessment are advised.
No pathogenic variants detected
Does not exclude SPG2, as mutations may be present in non-coding regions not fully covered by this test. Clinical follow-up and consideration of other HSP-related genes may be needed.
Variants of uncertain significance (VUS) detected
The clinical significance is currently unknown. Additional segregation analysis in family members or functional studies may help clarify.
If you are experiencing progressive stiffness or weakness in your legs, have a family history of hereditary spastic paraplegia, or have received a positive genetic result, you should consult a neurologist or a clinical geneticist for further evaluation and management.
Limitations
- ⚠This test does not detect large structural rearrangements or deep intronic variants outside the analysed regions.
- ⚠Variants of uncertain significance (VUS) may be reported; additional family studies may be required for interpretation.
- ⚠NGS may not reliably detect somatic mosaicism or certain repeat expansions.
- ⚠Results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or discomfort at the blood draw site
- ●Possibility of fainting or lightheadedness during blood collection
- ●Rare infection at the venipuncture site
Interfering Factors
- ●Contamination of sample during collection
- ●Improper storage or transport leading to DNA degradation
- ●Maternal cell contamination in prenatal samples
- ●Very rare PCR or sequencing artifacts
Frequently Asked Questions
What is the cost of the PLP1 Gene SPG2 NGS Genetic Test at DNA Labs India?
What sample is needed for the PLP1 Gene SPG2 NGS test?
How long does it take to get the results?
Do I need to fast before the test?
What is SPG2?
How is SPG2 inherited?
Will this test detect all PLP1 mutations?
Can I get raw data files with the report?
Is a doctor's prescription required for this test?
Can the test be done during pregnancy?
Are home sample collection services available?
What does the clinical report contain?
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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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