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AP4M1 Gene SPG50 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

AP4M1 Gene SPG50 NGS Genetic Test

Short Name: AP4M1 SPG50 NGS

Also known as: SPG50 Genetic Test, Hereditary Spastic Paraplegia with Thin Corpus Callosum, AP4M1 Gene Sequencing

AP4M1 Gene SPG50 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 typically delivered in 3 to 4 weeks from sample receipt.. 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

The purpose of this NGS genetic test is to identify pathogenic variants in the AP4M1 gene in individuals suspected to have SPG50. Early confirmation of the genetic cause supports timely intervention, helps in genetic counseling, and enables informed family planning decisions.

Test Code
4541
CPT Code
NA
ICD Code
G11.4
Price
₹20,000
Sample Type
Blood or Extracted DNA or one drop Blood on FTA Card
Result Time
Reports are typically delivered in 3 to 4 weeks from sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. The referring physician may request pre-test genetic counseling. Patients should carry a valid photo ID and any previous MRI or clinical reports.

Method: Blood draw / FTA blood spot / DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist will collect the required sample. If using an FTA card, a single drop of blood is applied to the card. The sample is labelled and sent to the laboratory.

Step 3

Report Delivery

The patient can resume normal activities. The laboratory will process the sample, and the report will be delivered in 3 to 4 weeks. A follow-up consultation may be scheduled for result explanation.

Timeline: Reports are typically delivered in 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:No special preparation is needed. A genetic counsellor may collect a detailed family history and draw a pedigree chart before the test.
2
During the Test:The test is performed in the laboratory on the provided sample. It does not require hospital admission or anaesthesia.
3
After the Test:After sample collection, there are no restrictions. Reports will be delivered within 3-4 weeks; discuss results with a clinical geneticist or neurologist.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic variants in the AP4M1 gene in individuals suspected to have SPG50. Early confirmation of the genetic cause supports timely intervention, helps in genetic counseling, and enables informed family planning decisions.

How to Prepare

  • Kindly carry a copy of the test requisition form and clinical history.
  • No fasting is required.
  • For FTA card collection, ensure the blood spot air-dries before shipping.
  • If submitting extracted DNA, store and transport it according to the laboratory guidelines.

Doctor's Notes

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

"In a child with progressive spasticity and global developmental delay, an early genetic diagnosis can guide management, surveillance, and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or one drop Blood on FTA Card
Sample VolumeAs required by the laboratory
ContainerEDTA vacutainer / DNA vial / FTA card
Collection MethodBlood draw / FTA blood spot / DNA submission

Sample Stability

Blood in EDTA
FTA Card blood spot
Extracted DNA
Sample Rejection Criteria:
  • Improperly labelled or unlabelled samples
  • Samples received in non-approved containers
  • Clotted or haemolyzed blood samples
  • Inadequate DNA quantity or degraded DNA

Understanding Your Results

The AP4M1 gene is associated with autosomal recessive hereditary spastic paraplegia type 50. The test identifies pathogenic variants in the gene. Results are interpreted in the context of clinical symptoms, MRI findings, and family history. Please consult a clinical geneticist or neurologist for result interpretation.
📊

Pathogenic or Likely Pathogenic variant(s) detected in AP4M1

Supports a molecular diagnosis of SPG50. Inheritance is autosomal recessive; two affected alleles or one allele in the presence of a compatible clinical phenotype should be discussed with a clinical geneticist.

📊

Variant of Uncertain Significance detected in AP4M1

Clinical significance is unclear; additional family studies and clinical correlation are needed.

📊

No pathogenic variant detected in AP4M1

Reduces the likelihood of AP4M1-related SPG50 but does not exclude hereditary spastic paraplegia due to other genes.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if the child or family member has early-onset spasticity, global developmental delay, speech delay, intellectual disability, or seizures. Genetic testing should be done after pre-test genetic counseling.

Limitations

  • ⚠Single-gene NGS covers the coding and splice-site regions of AP4M1. It may not detect large deletions/duplications, deep intronic variants, or repeat expansions.
  • ⚠Variants of uncertain significance may require additional family studies and clinical correlation.
  • ⚠A negative result does not completely exclude SPG50 if the clinical picture is strong; other hereditary spastic paraplegia genes should be considered.

Risks & Considerations

  • ●Mild pain or bruising at the venipuncture site, Rare
  • ●Anxiety related to the blood draw or genetic testing process, Rare

Interfering Factors

  • ●Poor DNA quality or quantity can affect NGS analysis.
  • ●Contamination during sample collection or handling may interfere with results.

Compare With Similar Tests

TestAP4M1 Gene SPG50 NGS Genetic Test
ComparisonAP4M1 Gene SPG50 NGS Genetic Test

Frequently Asked Questions

What is the AP4M1 Gene SPG50 NGS Genetic Test?
This is a targeted next-generation sequencing test that analyses the AP4M1 gene to identify mutations associated with SPG50, a rare hereditary spastic paraplegia with thin corpus callosum.
Which condition is detected by this test?
It detects SPG50, also known as hereditary spastic paraplegia with thin corpus callosum (HSP-TCC), caused by mutations in the AP4M1 gene.
What are the symptoms of SPG50?
Symptoms often begin in infancy or early childhood and include delayed motor milestones, stiffness in the legs, difficulty walking, speech delay, intellectual disability, seizures, progressive spasticity, and bladder or bowel dysfunction.
What type of sample is required?
The test can be performed on whole blood, extracted DNA, or one drop of blood spotted on an FTA card.
Is fasting required before the test?
No, fasting is not required for the AP4M1 gene NGS genetic test.
What is the price of the test?
The test costs INR 20,000. Free home sample collection is available for online bookings.
How is the test performed?
Next-generation sequencing (NGS) technology is used to read the DNA sequence of the AP4M1 gene and detect known and unknown mutations.
Who should get this test done?
This test is recommended for individuals with symptoms suggestive of SPG50, delayed motor milestones, intellectual disability, spasticity, seizures, or a family history of AP4M1-related hereditary spastic paraplegia.
How long will the reports take?
Reports are typically available in 3 to 4 weeks after the sample reaches the laboratory.
Can this test identify carriers?
Yes, the test can provide information about carrier status and the risk of passing the AP4M1 gene mutation to children.
Are there any risks associated with this test?
The test only requires a blood sample or a blood spot. There are no significant risks. Mild bruising may occur at the blood collection site.
Is genetic counseling needed?
Yes, pre-test genetic counseling is advised to draw a family pedigree and assess inheritance risk. Post-test counseling is also recommended to understand the result and plan further management.
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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