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AP4B1 Gene SPG47 NGS Genetic Test

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AP4B1 Gene SPG47 NGS Genetic Test

Short Name: AP4B1 SPG47 NGS

Also known as: Hereditary Spastic Paraplegia Type 47 Genetic Test, SPG47 Gene Mutation Analysis, AP4B1 Gene Sequencing

AP4B1 Gene SPG47 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 Reports are delivered within 3 to 4 weeks after sample receipt. You will receive an SMS/email once the report is ready.. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS)All Ages🏠 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

The purpose of this test is to identify pathogenic mutations in the AP4B1 gene that cause spastic paraplegia type 47. This helps confirm a clinical diagnosis, provide prognostic information, guide management, and enable family members to understand their genetic risk.

Test Code
4538
ICD Code
G11.4
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks after sample receipt. You will receive an SMS/email once the report is ready.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. A genetic counseling session is recommended prior to testing. Please provide the referring physician's clinical notes and family history.

Method: Peripheral blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample from the arm. If using an FTA card, a simple finger-prick blood spot will be collected.

Step 3

Report Delivery

No specific aftercare is needed. You may resume normal activities immediately.

Timeline: Reports are delivered within 3 to 4 weeks after sample receipt. You will receive an SMS/email once the report is ready.

Patient Instructions

1
Before the Test:Please ensure you have had a genetic counseling session and have signed informed consent. Provide your clinician with the details of your family history and symptoms.
2
During the Test:You will provide a blood sample or FTA card spot. This is a simple and quick procedure.
3
After the Test:You will be notified when the report is ready. Please schedule a follow-up appointment with your genetic counselor or physician for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the AP4B1 gene that cause spastic paraplegia type 47. This helps confirm a clinical diagnosis, provide prognostic information, guide management, and enable family members to understand their genetic risk.

How to Prepare

  • Use an EDTA vacutainer for blood collection.
  • For FTA card sample, apply at least 3 blood spots.
  • Label the sample clearly with patient name and ID.
  • Store at room temperature and dispatch to the lab within 24 hours.
  • Ensure all clinical and pedigree information is submitted to the lab.

Doctor's Notes

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

"AP4B1-related SPG47 is a rare but important cause of progressive spasticity in children. A confirmed genetic diagnosis allows targeted management, family counseling, and early intervention. I recommend genetic testing in any child with unexplained lower limb spasticity and developmental delay."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3 ml blood or 1 drop blood on FTA card
ContainerEDTA tube / FTA card
Collection MethodPeripheral blood draw or FTA card blood spot

Sample Stability

Whole blood (EDTA)
FTA card blood spot
Extracted DNA
Sample Rejection Criteria:
  • Hemolyzed, clotted, or contaminated blood sample
  • Insufficient blood volume or insufficient FTA spots
  • Mislabeled or unlabeled sample
  • Sample received in improper transport container
  • Sample kept at room temperature for more than 48 hours (for whole blood)

Understanding Your Results

This test is used to detect mutations in the AP4B1 gene associated with SPG47. Results should be interpreted by a clinical geneticist in consultation with the referring physician.
📊

Positive (Pathogenic variant detected)

Confirms diagnosis of AP4B1-related SPG47. Genetic counseling advised.

📊

Negative (No pathogenic variant detected)

Reduces likelihood of AP4B1-related SPG47; other causes may be considered.

📊

Variant of uncertain significance (VUS)

Cannot determine clinical significance; further family studies may be needed.

📊

Carrier (heterozygous variant)

Carrier state identified; may not manifest disease. Not applicable for autosomal recessive conditions unless compound heterozygote.

⚠️ When to Consult a Doctor:

If your child shows early signs of spasticity, delayed walking, or cognitive delay, consult a pediatric neurologist or geneticist as early as possible. Genetic testing can confirm the diagnosis and guide supportive care.

Limitations

  • ⚠NGS may not detect large insertions, deletions, or structural rearrangements.
  • ⚠Mutations in regulatory regions or deep intronic areas may not be identified.
  • ⚠Negative results do not exclude hereditary spastic paraplegia caused by other genes.
  • ⚠Variant classification may change over time as new evidence emerges.

Risks & Considerations

  • ●Slight discomfort or pain during blood draw
  • ●Rare bruising or bleeding at puncture site
  • ●No serious physical risks from blood sampling

Interfering Factors

  • ●Maternal cell contamination in prenatal specimens
  • ●Insufficient DNA quantity or quality
  • ●Blood transfusion within the last 2 weeks
  • ●Bone marrow transplant

Frequently Asked Questions

What is the cost of the AP4B1 Gene SPG47 NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, which includes free home sample collection and a genetic counseling session.
What is SPG47?
SPG47 is a rare inherited neurological disorder caused by mutations in the AP4B1 gene. It leads to progressive muscle stiffness, weakness of the legs, intellectual disability, and other features.
What sample is needed for this test?
A blood sample (3 ml in EDTA), extracted DNA, or one drop of blood on an FTA card can be used for the test.
How long does it take to get the report?
Reports are issued within 3 to 4 weeks from the date the sample is received at the laboratory.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally.
Who should take this test?
This test is recommended for individuals with clinical symptoms of spastic paraplegia, a family history of SPG47, or as part of reproductive counseling for carrier couples.
How is the test performed?
DNA is extracted from the blood sample or FTA card. Next-generation sequencing is used to analyze the AP4B1 gene for mutations.
What does a negative result mean?
A negative result means no pathogenic mutations were found in the AP4B1 gene. It reduces the likelihood of SPG47 but does not rule out other causes of hereditary spastic paraplegia.
Will the test detect all types of SPG47 mutations?
NGS covers the coding exons and splice sites. Large deletions or duplications may not be reliably detected by this method. Whole exome sequencing or MLPA may be needed to detect certain structural variants.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for this test across multiple cities in India.
Can this test be used for prenatal diagnosis?
Prenatal testing for known familial AP4B1 mutations can be done after confirmation of the index case. It requires prior genetic counseling and should be performed in consultation with a clinical geneticist.
What is the significance of genetic counseling before the test?
Genetic counseling helps interpret the risk, draw a family pedigree, and provides informed consent before testing. It is an important part of the genetic testing process.
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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