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C19orf12 Gene SPG43 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

C19orf12 Gene SPG43 NGS Genetic Test

Short Name: C19orf12 SPG43 NGS

Also known as: SPG43 Genetic Test, C19orf12 Gene Mutation Analysis, Hereditary Spastic Paraplegia Type 43 NGS Test

C19orf12 Gene SPG43 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 after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To confirm the clinical diagnosis of SPG43 by detecting pathogenic variants in the C19orf12 gene, enabling appropriate medical management, genetic counseling, and screening of at-risk family members.

Test Code
4532
ICD Code
G11.4
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counseling session is recommended to draw a pedigree chart and document family history.

Method: Venipuncture or Finger-prick for FTA card

Step 2

Laboratory Analysis

A blood sample will be collected by venipuncture. For FTA card, a single drop of blood is placed on the card.

Step 3

Report Delivery

No special precautions after sample collection. You can resume normal activities.

Timeline: 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No fasting is required. A genetic counseling session is recommended to draw a pedigree chart and document family history.
2
During the Test:A blood sample will be collected by venipuncture. For FTA card, a single drop of blood is placed on the card.
3
After the Test:No special precautions after sample collection. You can resume normal activities.

About This Test

Who Should Get This Test

To confirm the clinical diagnosis of SPG43 by detecting pathogenic variants in the C19orf12 gene, enabling appropriate medical management, genetic counseling, and screening of at-risk family members.

How to Prepare

  • No fasting required
  • Provide clinical history and prior genetic testing results if available
  • Genetic counseling session before testing is recommended

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"SPG43 is a rare inherited neurological condition. NGS-based genetic testing is the gold standard for confirming the diagnosis and enabling accurate family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or one drop on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger-prick for FTA card

Sample Stability

Whole blood at room temperature: up to 72 hours
Extracted DNA at -20°C: up to 12 months
FTA card at room temperature: stable for years
Sample Rejection Criteria:
  • Hemolyzed blood samples
  • Insufficient sample quantity
  • Mislabeled specimens
  • Improper storage conditions

Understanding Your Results

The genetic test results are interpreted by a molecular geneticist. Finding a pathogenic variant in the C19orf12 gene confirms the diagnosis of SPG43.
Pathogenic variant detected: diagnosis of SPG43 confirmed; genetic counseling recommended for family members.
No pathogenic variant detected: does not rule out SPG43; other genetic causes may be considered.
Variant of uncertain significance (VUS): further segregation analysis in family members may be needed.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or a family member experience symptoms such as muscle weakness, spasticity, walking difficulties, or have a known family history of SPG43.

Limitations

  • ⚠NGS may not detect large deletions or repeat expansions
  • ⚠Negative result does not exclude SPG43 if variants in other genes are involved
  • ⚠Results should be interpreted in context of clinical findings

Risks & Considerations

  • ●Rare risk of bleeding at venipuncture site
  • ●Slight bruising
  • ●Discomfort during blood draw

Interfering Factors

  • ●Poor quality DNA
  • ●Contamination
  • ●Incorrect sample labeling
  • ●Rare genetic variants not covered by NGS

Frequently Asked Questions

What is the C19orf12 gene SPG43 NGS genetic test?
This test detects mutations in the C19orf12 gene using NGS technology to confirm a diagnosis of SPG43, a rare hereditary neurodegenerative disorder.
What is the cost of the test?
The test costs INR 20,000 in India, which includes genetic counseling and expert interpretation.
What symptoms are associated with SPG43?
Symptoms include muscle weakness, spasticity, difficulty walking, abnormal gait, tremors, loss of balance, impaired speech, and intellectual disability. They usually begin in childhood or adolescence.
How is the test performed?
A blood sample is collected, or extracted DNA or an FTA card blood spot is used. NGS technology sequences the C19orf12 gene to identify any mutations.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
What sample type is acceptable?
Blood, extracted DNA, or one drop of blood on an FTA card.
How long will it take to get results?
Reports are available in 3 to 4 weeks.
Is genetic counseling included in the test price?
Yes, a genetic counseling session is included to help understand the implications of the results.
In which cities is home sample collection available?
Home sample collection is available in over 100 cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic C19orf12 mutation, confirming the diagnosis of SPG43.
What does a negative test result mean?
A negative result does not completely rule out SPG43, as mutations in other genes or types of variants may be responsible.
Who should consider this test?
Individuals experiencing symptoms of SPG43 or with a family history of the condition, as well as those referred by a neurologist or clinical geneticist.
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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✓ 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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