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CPT1C Gene SPG73 NGS Genetic Test

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CPT1C Gene SPG73 NGS Genetic Test

Short Name: CPT1C SPG73 NGS Test

Also known as: SPG73 Genetic Test, CPT1C Gene Mutation Analysis, Hereditary Spastic Paraplegia Genetic Test

CPT1C Gene SPG73 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 3-4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the CPT1C Gene SPG73 NGS Genetic Test is to identify mutations in the CPT1C gene that cause hereditary spastic paraplegia (HSP), enabling precise diagnosis, informed medical management, and genetic counseling for affected individuals and their families.

Test Code
1827
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required; ensure genetic counseling is done beforehand.

Method: Venipuncture for blood samples

Step 2

Laboratory Analysis

A blood sample will be drawn via venipuncture or use of FTA card as per sample type.

Step 3

Report Delivery

Apply pressure to the puncture site; mild bruising may occur. Sample is sent to the lab for analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to discuss implications and draw a family pedigree chart.
2
During the Test:Sample collection via blood draw; procedure is quick and minimally invasive.
3
After the Test:Results are available online after 3-4 weeks; follow up with your doctor for interpretation.

About This Test

Who Should Get This Test

The purpose of the CPT1C Gene SPG73 NGS Genetic Test is to identify mutations in the CPT1C gene that cause hereditary spastic paraplegia (HSP), enabling precise diagnosis, informed medical management, and genetic counseling for affected individuals and their families.

How to Prepare

  • Fast for not required
  • Provide clinical history and pedigree chart if available
  • Use sterile equipment for blood collection
  • Store sample at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is essential for diagnosing hereditary spastic paraplegia caused by CPT1C gene mutations, enabling early intervention and management for patients with progressive leg weakness and spasticity."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood samples

Sample Stability

Room temperatureUp to 7 days for blood on FTA card
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results from the CPT1C Gene SPG73 NGS Genetic Test indicate the presence or absence of mutations in the CPT1C gene. A positive result confirms a genetic basis for HSP, while a negative result may require further testing or clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of HSP SPG73; genetic counseling recommended.

📊

Negative for pathogenic variant

No mutation detected in CPT1C gene; consider other genetic or non-genetic causes.

📊

Variant of uncertain significance (VUS)

Mutation detected but clinical significance unknown; follow-up testing may be needed.

⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if experiencing progressive leg weakness, spasticity, walking difficulties, or if there is a family history of HSP.

Limitations

  • ⚠May detect variants of uncertain significance (VUS)
  • ⚠Cannot rule out mutations in other HSP-related genes
  • ⚠Requires clinical correlation for diagnosis

Risks & Considerations

  • ●Mild pain or bruising at blood draw site
  • ●Rare risk of infection or fainting

Interfering Factors

  • ●Sample contamination
  • ●Improper sample handling
  • ●DNA degradation due to storage issues

Compare With Similar Tests

TestCPT1C Gene SPG73 NGS Genetic TestSPG4 (SPAST) Gene TestSPG3A (ATL1) Gene Test
ComparisonCPT1C Gene SPG73 NGS Genetic Test

Frequently Asked Questions

What is the CPT1C Gene SPG73 NGS Genetic Test?
It is a Next-Generation Sequencing test to detect mutations in the CPT1C gene, causing hereditary spastic paraplegia (HSP).
How much does the test cost?
The cost is INR 20000, including sample collection, analysis, and interpretation.
What sample type is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3-4 weeks.
Is home sample collection available?
Yes, free home collection is offered across India for online bookings.
What are the symptoms of HSP that may indicate this test?
Symptoms include progressive leg weakness, stiffness, walking difficulties, numbness, and bladder/bowel issues.
Can this test diagnose all types of HSP?
No, it specifically diagnoses HSP caused by CPT1C mutations; other genes may be involved.
What should I do before the test?
A genetic counseling session is recommended to discuss family history and implications.
How accurate is the test?
NGS technology ensures high accuracy, but results should be interpreted clinically.
Is the test covered by insurance?
Coverage depends on insurance policies; check with your provider.
What if the test shows a variant of uncertain significance?
Follow-up with a geneticist may be needed for further evaluation and monitoring.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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