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AP4E1 Gene SPG51 NGS Genetic Test

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AP4E1 Gene SPG51 NGS Genetic Test

Short Name: AP4E1 SPG51 NGS

Also known as: AP4E1 Gene Sequencing, SPG51 Genetic Test, Hereditary Spastic Paraplegia Type 51 NGS Test

AP4E1 Gene SPG51 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. 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 ordered to confirm or exclude a genetic cause of hereditary spastic paraplegia type 51. Detection of a pathogenic AP4E1 variant supports the clinical diagnosis, helps in genetic counselling, and guides family screening.

Test Code
4546
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
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended before the test to draw a family pedigree and document clinical history. Please carry any previous medical reports and a valid ID.

Method: Venipuncture / FTA card blood spot / extracted DNA submission

Step 2

Laboratory Analysis

A simple blood sample will be collected from a vein, or a few drops of blood will be placed on an FTA card. The collection takes only a few minutes.

Step 3

Report Delivery

You can resume your regular activities immediately. The sample will be sent to the laboratory for analysis. Your report will be shared within 3 to 4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation is needed. Genetic counselling is recommended before the test to discuss the purpose, potential outcomes, and family implications.
2
During the Test:The healthcare provider will collect a blood sample or an FTA card sample. The procedure is quick and minimally invasive.
3
After the Test:No restrictions after sample collection. You will be informed about the report availability and can access the report online or by email.

About This Test

Who Should Get This Test

This test is ordered to confirm or exclude a genetic cause of hereditary spastic paraplegia type 51. Detection of a pathogenic AP4E1 variant supports the clinical diagnosis, helps in genetic counselling, and guides family screening.

How to Prepare

  • Ensure the request form includes clinical history and family pedigree.
  • Use an EDTA tube for whole blood sample; do not freeze whole blood.
  • Allow FTA card to air dry and store it in a moisture-free envelope.
  • Label the sample with patient name and unique ID.

Doctor's Notes

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

"This test should only be ordered after a clinical neurological evaluation and genetic counselling. The result should be interpreted in the context of the full clinical picture and family pedigree."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol; common volume: 2-3 mL blood or one FTA card spot
ContainerEDTA vacutainer / FTA card / sterile tube
Collection MethodVenipuncture / FTA card blood spot / extracted DNA submission

Sample Stability

Whole blood (EDTA): 2-8°C for up to 72 hours
Extracted DNA: Store at -20°C or below
FTA card blood spot: Room temperature in a dry container
Sample Rejection Criteria:
  • Sample received without proper labeling
  • Clotted or hemolysed blood sample
  • Sample not accompanied by clinical history and consent
  • Sample leaking during transport
  • Expired or damaged FTA card

Understanding Your Results

The interpretation of genetic test results should be performed by a qualified clinical geneticist in the context of the patient's clinical presentation and family history.
Positive: A pathogenic or likely pathogenic variant in AP4E1 gene is identified, supporting SPG51 diagnosis.
Negative: No pathogenic variant detected; however, this does not exclude all genetic causes of hereditary spastic paraplegia.
Variant of uncertain significance: Additional family studies or functional analysis may be needed.
Incidental findings: Other clinically significant variants may be reported if identified in the analyzed regions.
⚠️ When to Consult a Doctor:

If you or your child develop early symptoms such as leg stiffness, difficulty walking, delayed motor milestones, intellectual disability, or seizures, consult a neurologist and genetic counsellor for evaluation.

Limitations

  • ⚠This test detects single nucleotide variants and small insertions/deletions in AP4E1.
  • ⚠It may not reliably detect large structural rearrangements, deep intronic variants, or copy number changes.
  • ⚠A negative result does not exclude other hereditary spastic paraplegia genes.
  • ⚠Variant classification may change as new research becomes available.
  • ⚠Genetic test results must be correlated with clinical findings.

Risks & Considerations

  • ●Minor pain or bruising at the blood collection site
  • ●Rare risk of infection or bleeding after venipuncture
  • ●FTA card collection may cause mild discomfort at the finger-prick site

Interfering Factors

  • ●Poor DNA quality or insufficient quantity
  • ●Maternal cell contamination in blood samples from infants
  • ●Low sequencing coverage in GC-rich regions may affect variant detection
  • ●Sample mix-up or mislabeling
  • ●Current genetic database limitations for variant interpretation

Compare With Similar Tests

TestAP4E1 Gene SPG51 NGS Genetic Test
ComparisonAP4E1 Gene SPG51 NGS Genetic Test

Frequently Asked Questions

What is the AP4E1 Gene SPG51 NGS Genetic Test?
It is a targeted genetic test that uses next-generation sequencing to detect mutations in the AP4E1 gene, which is associated with spastic paraplegia type 51 (SPG51).
What condition does AP4E1 gene testing help diagnose?
This test helps diagnose SPG51, a rare neurological disorder caused by mutations in the AP4E1 gene. It is characterised by weakness and stiffness in the legs, difficulty walking, delayed motor skills, intellectual disability and seizures.
Who should consider this test?
Individuals with symptoms suggestive of hereditary spastic paraplegia, particularly early-onset gait problems, leg stiffness, developmental delay or intellectual disability, and individuals with a family history of SPG51 may be considered for this test.
What is the cost of the AP4E1 Gene SPG51 NGS Genetic Test at DNA Labs India?
The test costs Rs 20000.0 at DNA Labs India. The price includes free home sample collection for online bookings in many cities.
What sample is required for the test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card. The sample type is selected based on patient comfort and laboratory protocol.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can follow your normal diet and hydration.
How long does the report take?
Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings for this test across multiple cities in India.
What technology is used for this test?
Next-generation sequencing (NGS) technology is used to analyze the AP4E1 gene. NGS can examine multiple gene regions simultaneously and provide high-resolution sequence information.
What will the test report include?
The report includes information about the presence or absence of sequence variants in the AP4E1 gene, classification of variants, and a clinical interpretation in the context of your symptoms and family history.
Are there any risks associated with the test?
The test is safe. If blood is collected by venipuncture, there may be slight pain, redness or bruising at the needle site. FTA card collection is minimally invasive.
Is this test covered by insurance?
In general, this test is not covered by insurance. You may check with your insurance provider or the laboratory for any available reimbursement or financing options.
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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