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IBA57 Gene Spastic paraplegia type 74, autosomal recessive NGS Genetic Test

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IBA57 Gene Spastic paraplegia type 74, autosomal recessive NGS Genetic Test

Short Name: IBA57 Gene SPG74 NGS Test

Also known as: SPG74 Genetic Test, IBA57 Related Spastic Paraplegia Genetic Test, SPG74 NGS Mutation Analysis

IBA57 Gene Spastic paraplegia type 74, autosomal recessive 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 Report is delivered within 3 to 4 weeks from the date of sample receipt. An email notification is sent when the report is ready to view online.. Free home collection in 300+ cities across India.

NGS Genetic TestAll 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

This test is offered to confirm a suspected diagnosis of spastic paraplegia type 74, characterize the genetic basis of the disorder, estimate recurrence risk in affected families, and guide clinical management and reproductive decisions.

Test Code
4513
ICD Code
G11.4
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Report is delivered within 3 to 4 weeks from the date of sample receipt. An email notification is sent when the report is ready to view online.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Fasting is not necessary. It is recommended to bring medical history, previous test reports, and referral letter if available.

Method: Venipuncture / FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect 3-4 ml of blood in an EDTA vacutainer. If using FTA card, a small drop of blood is spotted onto the card, allowed to air dry, and placed in the sterile envelope.

Step 3

Report Delivery

If a blood draw has been done, bandage is applied at the puncture site. There are no activity restrictions. The sample will be stored and transported to the lab at appropriate conditions.

Timeline: Report is delivered within 3 to 4 weeks from the date of sample receipt. An email notification is sent when the report is ready to view online.

Patient Instructions

1
Before the Test:The ordering physician will review the clinical suspicion and decide whether a single-gene test or a comprehensive panel is appropriate. Genetic counseling is advised prior to the test.
2
During the Test:After the sample is received, DNA extraction is performed and the IBA57 gene coding regions and flanking splice sites are enriched with target-specific probes and analysed on an Illumina NGS platform. A bioinformatics pipeline maps reads to GRCh37/hg19, calls variants and classifies them.
3
After the Test:The report is generated containing an interpretative summary, variant details and clinical recommendations. The raw data files (FASTQ and VCF) are made available to the requesting clinician and patient upon request.

About This Test

Who Should Get This Test

This test is offered to confirm a suspected diagnosis of spastic paraplegia type 74, characterize the genetic basis of the disorder, estimate recurrence risk in affected families, and guide clinical management and reproductive decisions.

How to Prepare

  • Use an EDTA vacutainer for peripheral blood collection.
  • For FTA card, spot one full circle of blood and allow it to dry completely.
  • Label the sample clearly with patient name, date, and unique ID.
  • Avoid hemolyzed or clotted samples for DNA extraction.
  • Ship the sample within 24-48 hours for whole blood samples, or at room temperature for FTA cards.

Doctor's Notes

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

"This test helps families understand the genetic basis of spastic paraplegia, enabling informed decisions on family planning and diagnostic clarity."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample Volume3-4 ml whole blood / 2-5 µg DNA / 1 drop blood spot
ContainerEDTA vacutainer / sterile tube / FTA card
Collection MethodVenipuncture / FTA card

Sample Stability

EDTA whole blood: 7 days at 2-8°C
Extracted DNA: 6 months at -20°C
FTA card: 24 months at room temperature
Sample Rejection Criteria:
  • Visible hemolysis or clotting in EDTA sample
  • Insufficient quantity of blood or DNA
  • Mislabeled or unlabeled sample
  • Sample in non-sterile or broken container

Understanding Your Results

The test result should be interpreted in the context of clinical presentation and family history. Variant classification follows the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines.
📊

A pathogenic or likely pathogenic variant is identified in the IBA57 gene. This confirms the clinical diagnosis for autosomal recessive SPG74. Genetic counseling and prenatal testing can be considered.

📊

No pathogenic variant was identified. This does not exclude the possibility of a different genetic cause, a gene variant not covered by this test, or a non-genetic condition.

📊

A genetic variant with unknown impact on the protein function was found. Additional data such as segregation analysis, functional studies, or other family members may be needed to clarify its significance.

⚠️ When to Consult a Doctor:

If you or your child have progressive leg weakness, walking difficulties, frequent falls, muscle stiffness, or a family history of hereditary spastic paraplegia, please consult a Neurologist or a Genetic Medicine specialist for a clinical evaluation and genetic testing.

Limitations

  • ⚠NGS may not detect large deletions/duplications, inversions or repeat expansions.
  • ⚠Mutations in deep intronic or regulatory regions are not covered.
  • ⚠A negative result does not rule out the clinical diagnosis if other genetic causes are suspected.
  • ⚠Variants of uncertain significance cannot be used for diagnosis or carrier status without further analysis.

Risks & Considerations

  • ●No physical risks are associated with the sample collection.
  • ●Sedentary discomfort and bruising at venipuncture site.
  • ●Psychological and emotional impact of genetic results (e.g., carrier status, positive diagnosis).

Interfering Factors

  • ●Recent bone marrow transplantation or blood transfusion may lead to false negative results
  • ●DNA contamination from another individual
  • ●Maternal cell contamination in prenatal samples
  • ●Low DNA concentration or poor DNA quality

Compare With Similar Tests

TestIBA57 Gene Spastic paraplegia type 74, autosomal recessive NGS Genetic TestIBA57 Gene NGS TestHereditary Spastic Paraplegia PanelWhole Exome Sequencing
ComparisonIBA57 Gene Spastic paraplegia type 74, autosomal recessive NGS Genetic Test

Frequently Asked Questions

What is SPG74?
SPG74 is a rare inherited neurological disorder (hereditary spastic paraplegia) caused by mutations in the IBA57 gene. It leads to progressive stiffness and weakness in the lower limbs.
What is the cost of the IBA57 gene SPG74 NGS genetic test in India?
DNA Labs India offers this test for Rs 20,000, which includes home sample collection services across India.
What sample is required for this test?
A blood sample (3-4 ml in an EDTA vacutainer), extracted DNA, or a blood spot on an FTA card is accepted.
How long will my report take?
The test report is generally delivered within 3 to 4 weeks after the sample is received.
Does the test require fasting?
No fasting is required. You can give the sample at any time of the day.
Which doctor should I consult for this test?
A Neurologist or Genetics specialist usually orders this test after a clinical evaluation of spastic paraplegia symptoms.
Can this test tell if I am a carrier?
Yes, the test can identify carriers who have one mutated IBA57 gene; however, they do not develop the disease.
What does a positive result mean?
A positive result indicates a pathogenic or likely pathogenic variant in the IBA57 gene, which confirms the diagnosis of SPG74 if the clinical symptoms match.
Can a negative result exclude SPG74?
A negative result greatly reduces the likelihood of an IBA57-related form of SPG74, but does not completely exclude all types of hereditary spastic paraplegia.
Is there any risk involved?
The only physical risk is a minor bruise or discomfort at the needle site. There may be psychological implications of discovering a genetic alteration.
Do you share raw data along with the report?
Yes, DNA Labs India is transparent and provides FASTQ, VCF, and raw data files along with the conclusive clinical report.
How do I book this test?
You can book online through the DNA Labs India website. A free home sample collection appointment will be scheduled at your convenience.
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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