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ZFYVE27 Gene SPG33 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ZFYVE27 Gene SPG33 NGS Genetic Test

Short Name: ZFYVE27 / SPG33 NGS

Also known as: ZFYVE27 Genetic Test, SPG33 Gene Test, Hereditary Spastic Paraplegia Type 33 NGS Test

ZFYVE27 Gene SPG33 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 the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 this test is to detect pathogenic or likely pathogenic variants in the ZFYVE27 gene and thereby confirm or exclude a molecular diagnosis of hereditary spastic paraplegia type 33 (SPG33). It also contributes to familial risk assessment and reproductive planning.

Test Code
4533
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 the sample reaches the laboratory.
Fasting Required
No
Method
Next-generation sequencing (NGS)
Step 1

Sample Collection

No fasting is required. The patient should provide a thorough clinical history and pedigree chart from the genetic counselling session. Neurologist pre-test information and informed consent are necessary before sample collection.

Method: Venipuncture or dried blood spot on FTA card

Step 2

Laboratory Analysis

A small blood sample is collected by venipuncture, or a few drops of blood may be spotted onto an FTA card if home collection or remote testing is chosen. The procedure is brief and causes minimal discomfort.

Step 3

Report Delivery

There are no post-collection restrictions. The sample is transported to the laboratory for DNA extraction, sequencing, analysis, and report generation. The report is typically issued within 3 to 4 weeks.

Timeline: 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Discuss the purpose, limitations, and possible outcomes of the test with your doctor. Provide your complete family history and sign the informed consent form.
2
During the Test:A small blood sample is collected. You may feel a slight sting, but the procedure is quick and safe.
3
After the Test:You may return to normal activities immediately. The report will be shared after interpretation, usually within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic or likely pathogenic variants in the ZFYVE27 gene and thereby confirm or exclude a molecular diagnosis of hereditary spastic paraplegia type 33 (SPG33). It also contributes to familial risk assessment and reproductive planning.

How to Prepare

  • No fasting required.
  • Please carry a valid photo ID and any previous neurological or MRI reports.
  • Complete the genetic counselling session and informed consent before sample collection.
  • If using an FTA card, let the blood spot air dry completely and place it in the provided envelope.

Doctor's Notes

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

"Pre-test genetic counselling is essential to document the family history and pedigree. An Ob-Gyn perspective helps families understand recurrence risk and reproductive options when a ZFYVE27 pathogenic variant is known."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per collection kit
ContainerEDTA vacutainer, DNA vial, or FTA paper card
Collection MethodVenipuncture or dried blood spot on FTA card

Sample Stability

Whole blood in EDTA: stable at 2–8°C for up to 72 hours.
Extracted DNA: stable at -20°C or lower.
FTA card: stable at room temperature when kept dry and protected from moisture.
Sample Rejection Criteria:
  • Clotted or severely haemolysed blood sample
  • Mislabeled or unlabelled sample
  • Insufficient sample quantity
  • FTA card that is wet, contaminated, or improperly packed

Understanding Your Results

Genetic test results should be interpreted by a clinical geneticist or neurologist in the context of clinical presentation and family history. Identified variants are classified according to ACMG/AMP guidelines.
📊

Positive (pathogenic/likely pathogenic variant detected)

Molecular diagnosis of ZFYVE27-associated SPG33 is supported. Genetic counselling and family studies are recommended.

📊

Negative (no pathogenic/likely pathogenic variant detected)

No disease-causing variant was found in ZFYVE27. Other HSP genes or non-genetic causes should still be considered.

📊

Variant of uncertain significance (VUS)

A variant was found but its clinical significance is not yet established. Additional segregation or functional studies may help clarify.

⚠️ When to Consult a Doctor:

Consult a neurologist or a genetic medicine specialist if you have progressive leg stiffness, difficulty walking, frequent falls, lower-limb weakness, or a family history of hereditary spastic paraplegia.

Limitations

  • ⚠This test is limited to the ZFYVE27 gene and does not exclude variants in other HSP-associated genes.
  • ⚠Targeted NGS covers the coding regions and exon-intron boundaries; deep intronic or regulatory regions are not routinely analysed.
  • ⚠A negative result does not entirely exclude a genetic cause of hereditary spastic paraplegia.
  • ⚠Variant classifications are based on current scientific evidence and may change over time.

Risks & Considerations

  • ●Mild pain or bruising at the blood collection site
  • ●Rare risk of local infection at the venipuncture site
  • ●No major medical risks are associated with the genetic test itself

Interfering Factors

  • ●Highly homologous sequences or pseudogenes may occasionally interfere with variant calling, though bioinformatics filters are applied.
  • ●Very rare deep intronic, regulatory, or structural variants may not be detected by targeted NGS.
  • ●Low-level somatic mosaicism may fall below the analytical threshold.

Compare With Similar Tests

TestZFYVE27 Gene SPG33 NGS Genetic Test
ComparisonZFYVE27 Gene SPG33 NGS Genetic Test

Frequently Asked Questions

What is the ZFYVE27 Gene SPG33 NGS Genetic Test?
It is a targeted next-generation sequencing test that analyses the ZFYVE27 gene to detect pathogenic variations associated with hereditary spastic paraplegia type 33 (SPG33).
How much does this test cost at DNA Labs India?
The test costs INR 20,000, which includes sample collection, DNA extraction, sequencing, analysis, raw data files and a clinical report.
What sample is needed for the ZFYVE27 SPG33 test?
The test can be performed on whole blood in EDTA, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before this genetic test?
No, fasting is not required for this genetic test.
Who should consider taking this test?
People with progressive leg stiffness and weakness, difficulty walking, a family history of hereditary spastic paraplegia, or a known ZFYVE27 variant in the family may consider this test after genetic counselling.
How long does it take to get the report?
The report is usually available in 3 to 4 weeks after the sample reaches the laboratory.
Does the test include raw data files?
Yes, DNA Labs India provides FASTQ and VCF files along with the conclusive clinical report for transparency.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant in ZFYVE27 was identified, supporting a clinical diagnosis of SPG33. Genetic counselling is recommended.
What does a negative result mean?
A negative result means no pathogenic variant was detected in ZFYVE27. However, it does not exclude all forms of hereditary spastic paraplegia or other causes of the symptoms.
Can this test be done for prenatal diagnosis?
Prenatal testing requires prior identification of the familial pathogenic variant and specialised counselling. It is not a first-line test and should be discussed with a fetal medicine specialist and clinical geneticist.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India.
Does insurance cover this genetic test?
Insurance coverage varies by provider. Please check with your insurance company to confirm whether genetic testing is covered and what your out-of-pocket cost would be.
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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