AP5Z1 Gene SPG48 NGS Genetic Test
Short Name: AP5Z1 SPG48 NGS
Also known as: SPG48 NGS Genetic Test, AP5Z1 Hereditary Spastic Paraplegia Test, AP5Z1 Targeted Gene Analysis, HSP Type 48 DNA Test
AP5Z1 Gene SPG48 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 generally available 3 to 4 weeks after the laboratory receives the sample.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic or likely pathogenic variants in the AP5Z1 gene and thereby support a diagnosis of hereditary spastic paraplegia type 48. It is also used to determine the genetic basis of spastic paraplegia in symptomatic patients, guide recurrence risk counselling for parents and family members, and assist in management decisions such as physiotherapy referrals and anticipatory surveillance.
- Test Code
- 4540
- ICD Code
- G11.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally available 3 to 4 weeks after the laboratory receives the sample.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
An appointment and a pre-test genetic counselling session are required before sample collection. The counsellor will draw a pedigree chart and document the patient's clinical history. No fasting or special preparation is needed. Please bring a valid doctor's referral, previous investigation reports, and identification document.
Method: Venipuncture or FTA card finger-prick
Laboratory Analysis
A qualified phlebotomist will collect a venous blood sample from the patient. Alternatively, a single drop of blood may be collected on an FTA card through a simple finger-prick. The procedure is quick and poses minimal discomfort.
Report Delivery
No restriction on routine activities. The sample will be labelled and transported to the laboratory. The report will be shared after analysis and reviewed by a clinical geneticist. The genetic counselling session will include explanation of the report once available.
Timeline: Reports are generally available 3 to 4 weeks after the laboratory receives the sample.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the AP5Z1 gene and thereby support a diagnosis of hereditary spastic paraplegia type 48. It is also used to determine the genetic basis of spastic paraplegia in symptomatic patients, guide recurrence risk counselling for parents and family members, and assist in management decisions such as physiotherapy referrals and anticipatory surveillance.
How to Prepare
- Schedule a consultation with a genetic counsellor before the test
- Carry the test requisition form signed by the referring physician
- Confirm patient identification and correct labelling
- Use EDTA vacutainer for venous blood or FTA card for finger-prick
- Fill the consent form before sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A multidisciplinary approach involving a neurologist and clinical geneticist is important when investigating hereditary spastic paraplegia. In families with a known AP5Z1 variant, obstetricians and gynecologists also play a role in preconception and prenatal counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Mislabelled or unlabelled sample
- Incomplete or invalid consent or requisition
- Sample received after prolonged transit without maintaining temperature
- FTA card with insufficient dried blood spots or contamination
Understanding Your Results
Negative result; does not exclude all genetic causes
Action: Correlate clinically; consider broader HSP panel if suspicion is high
Inconclusive result
Action: Family segregation studies and further genetic counselling are recommended
Positive result supports a molecular diagnosis of SPG48
Action: Clinical correlation, family testing, and management planning are recommended
Consult a neurologist or clinical geneticist if you have progressive lower-limb spasticity, gait disturbance, delayed motor milestones, or a family history of hereditary spastic paraplegia. Also consult your doctor after receiving a positive or uncertain genetic test result before making treatment or family planning decisions.
Limitations
- ⚠Targeted to AP5Z1; other HSP genes are not analysed
- ⚠Does not exclude non-genetic causes of spastic paraparesis
- ⚠Variants of uncertain significance may require additional family studies
- ⚠Splice-site or regulatory variants may be missed
- ⚠NGS may not reliably detect all structural variants, triplet repeat expansions, or mosaic variants
Risks & Considerations
- ●Mild pain, bruising, or bleeding at the venipuncture site
- ●Rare risk of local infection
- ●Psychological impact of a positive or uncertain result
- ●Potential implications for family members and reproductive decisions
Interfering Factors
- ●Insufficient quantity of DNA due to clotted or haemolysed sample
- ●Potential contamination with another person's DNA during collection or extraction
- ●Variant located in deep intronic or promoter regions not covered by standard NGS
- ●Copy number variants or large rearrangements may not be detected
- ●Incorrect clinical history or pedigree leading to misinterpretation
Compare With Similar Tests
| Test | AP5Z1 Gene SPG48 NGS Genetic Test | AP5Z1 Gene SPG48 NGS Genetic Test | Hereditary Spastic Paraplegia NGS Panel |
|---|---|---|---|
| Comparison | AP5Z1 Gene SPG48 NGS Genetic Test |
Frequently Asked Questions
What is the AP5Z1 Gene SPG48 NGS Genetic Test?
What is the cost of this test at DNA Labs India?
What type of sample is required?
Do I need to fast before the test?
When do symptoms of SPG48 appear?
Who should consider this test?
Can this test diagnose all types of hereditary spastic paraplegia?
How long does it take to get the report?
Is home sample collection available?
What does a negative result mean?
Is genetic counselling included in the price?
Can this test be used for prenatal diagnosis?
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