CYP7B1 Gene SPG5A NGS Genetic Test
Short Name: CYP7B1 SPG5A NGS Test
Also known as: CYP7B1 Gene Mutation Analysis, SPG5A Genetic Panel, Hereditary Spastic Paraplegia Type 5A Genetic Test, CYP7B1 Sequencing Test, HSP Genetic Test
CYP7B1 Gene SPG5A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Reports will be delivered via the online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of the CYP7B1 Gene SPG5A NGS Genetic Test is to confirm or rule out a molecular diagnosis of Hereditary Spastic Paraplegia Type 5A in individuals presenting with clinical features suggestive of the condition. This test enables detection of causative mutations in the CYP7B1 gene, facilitating accurate diagnosis, differentiation from other forms of hereditary spastic paraplegia and other neurological conditions, carrier testing for family members, informed genetic counselling, prenatal or preimplantation genetic diagnosis in at-risk families, and eligibility assessment for clinical trials or emerging therapies. The test is recommended by neurologists and clinical geneticists for patients with unexplained progressive lower-limb spasticity, particularly when a hereditary pattern is suspected.
- Test Code
- 1819
- CPT Code
- 81479
- ICD Code
- G11.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Reports will be delivered via the online portal, email, or WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required)
Sample Collection
A genetic counselling session is recommended prior to sample collection to discuss test implications, expected outcomes, and to document family history through a pedigree chart. No fasting is required. Inform the collecting healthcare professional about any recent blood transfusions or ongoing medications.
Method: Venipuncture / Finger-prick on FTA Card
Laboratory Analysis
A blood sample (3-5 mL) will be collected via venipuncture into an EDTA vacutainer, or alternatively a finger-prick blood sample may be spotted onto an FTA card. The procedure is quick and involves minimal discomfort.
Report Delivery
Apply pressure to the puncture site for a few minutes. There are no significant post-collection restrictions. The sample will be transported to the laboratory under appropriate cold-chain conditions for DNA extraction and NGS analysis.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Reports will be delivered via the online portal, email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the CYP7B1 Gene SPG5A NGS Genetic Test is to confirm or rule out a molecular diagnosis of Hereditary Spastic Paraplegia Type 5A in individuals presenting with clinical features suggestive of the condition. This test enables detection of causative mutations in the CYP7B1 gene, facilitating accurate diagnosis, differentiation from other forms of hereditary spastic paraplegia and other neurological conditions, carrier testing for family members, informed genetic counselling, prenatal or preimplantation genetic diagnosis in at-risk families, and eligibility assessment for clinical trials or emerging therapies. The test is recommended by neurologists and clinical geneticists for patients with unexplained progressive lower-limb spasticity, particularly when a hereditary pattern is suspected.
How to Prepare
- Ensure proper identification and labelling of the sample with patient details
- Collect 3-5 mL of peripheral venous blood in an EDTA (lavender-top) vacutainer
- Alternatively, collect one drop of blood on an FTA card following manufacturer instructions
- Gently invert the EDTA tube 8-10 times immediately after collection
- Do not use heparinised tubes as heparin can interfere with NGS library preparation
- Avoid haemolysed samples; collect with appropriate needle gauge
- Transport sample at ambient room temperature (15-25°C) to the laboratory within 48 hours
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Hereditary spastic paraplegia type 5A is a progressive neurological disorder caused by biallelic mutations in the CYP7B1 gene. Early genetic confirmation through NGS-based testing allows clinicians to distinguish SPG5A from other forms of HSP, guide prognosis, enable genetic counselling for affected families, and facilitate participation in emerging clinical trials. I recommend this test for any patient presenting with progressive lower-limb spasticity and a suggestive family history, particularly when other causes of myelopathy have been excluded."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in heparinised tube
- Haemolysed or clotted EDTA sample
- Insufficient sample volume (less than 1 mL)
- Sample without proper patient identification or labelling
- FTA card sample not properly dried or contaminated
Understanding Your Results
No Pathogenic Variants Detected
No disease-causing mutations were identified in the CYP7B1 gene. This significantly reduces the likelihood of SPG5A but does not entirely exclude it, as mutations in deep intronic or regulatory regions may not be detected. Clinical correlation and consideration of other genetic aetiologies is advised.
Pathogenic or Likely Pathogenic Variant(s) Detected (Homozygous or Compound Heterozygous)
Biallelic pathogenic variants in the CYP7B1 gene were identified, consistent with a molecular diagnosis of SPG5A. Genetic counselling is recommended for the patient and family members. Carrier testing may be offered to at-risk relatives.
Single Heterozygous Pathogenic Variant Detected
Only one pathogenic variant was identified. The individual is a carrier of SPG5A. The individual is not expected to be affected but may pass the variant to offspring. Carrier testing of the partner and genetic counselling are recommended if reproductive planning is relevant.
Variant(s) of Uncertain Significance (VUS) Detected
One or more variants of uncertain significance were identified. These variants currently lack sufficient evidence to classify as pathogenic or benign. Clinical correlation, family segregation studies, and periodic reclassification are recommended. This result alone cannot confirm or exclude a diagnosis of SPG5A.
Consult a neurologist or clinical geneticist if you or a family member experiences progressive stiffness or weakness in the legs, difficulty walking, loss of balance, or an abnormal gait, particularly if there is a family history of similar symptoms. Early consultation is important for timely diagnosis, management, and genetic counselling. If you have already received your test results, consult your referring physician or a genetic counsellor to understand the implications and discuss next steps.
Limitations
- ⚠This test does not detect mutations in genes other than CYP7B1; multi-gene HSP panels may be needed for comprehensive evaluation
- ⚠Deep intronic or regulatory region variants outside the targeted sequencing area may not be detected
- ⚠Variants of uncertain significance (VUS) may be reported; clinical correlation is advised
- ⚠Mosaicism at low levels may not be reliably detected
- ⚠Results should always be interpreted in conjunction with clinical findings and family history by a qualified geneticist or neurologist
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very rare risk of infection at the puncture site
- ●Psychological impact of genetic test results (anxiety, stress) — genetic counselling is provided to mitigate this
- ●Risk of variants of uncertain significance causing diagnostic uncertainty
Interfering Factors
- ●Degraded or low-quality DNA sample may reduce sequencing coverage and accuracy
- ●Recent blood transfusion (within 4 weeks) may affect results due to donor DNA
- ●Contamination during sample collection or transport
- ●Heparinised blood samples may interfere with NGS library preparation
Compare With Similar Tests
| Test | CYP7B1 Gene SPG5A NGS Genetic Test | Multi-Gene HSP Panel (NGS) | Sanger Sequencing of CYP7B1 | Whole Exome Sequencing (WES) | Whole Genome Sequencing (WGS) |
|---|---|---|---|---|---|
| Comparison | CYP7B1 Gene SPG5A NGS Genetic Test | A multi-gene panel analyses multiple genes associated with hereditary spastic paraplegia simultaneously. While more comprehensive for differential diagnosis of HSP subtypes, it may be costlier and may not provide the same depth of coverage for the CYP7B1 gene as a focused single-gene NGS test. | Sanger sequencing is the traditional gold standard for single-gene testing. It offers high accuracy but is more time-consuming and costly per base pair compared to NGS. NGS provides higher throughput, better sensitivity for detecting low-level variants, and simultaneous CNV analysis. | WES analyses all protein-coding regions of the genome and can identify mutations in CYP7B1 as well as other genes. It is more appropriate when the genetic aetiology is unclear and multiple conditions are being considered. However, it is significantly more expensive and may yield incidental findings. | WGS provides the most comprehensive view of the entire genome, including non-coding regions. While it can detect virtually all types of genetic variation, it is the most expensive option and requires extensive bioinformatics analysis. It is generally reserved for research or complex diagnostic scenarios. |
Frequently Asked Questions
What is the CYP7B1 Gene SPG5A NGS Genetic Test?
Who should undergo the CYP7B1 Gene SPG5A Genetic Test?
What is SPG5A and how does it affect the body?
What sample is required for this genetic test?
How long does it take to get the results of the CYP7B1 Gene SPG5A NGS Genetic Test?
What is the cost of the CYP7B1 Gene SPG5A NGS Genetic Test at DNA Labs India?
Is home sample collection available for this test?
What does it mean if no pathogenic variants are detected?
What is a Variant of Uncertain Significance (VUS)?
Is genetic counselling provided with this test?
Can this test be used for carrier testing or prenatal diagnosis?
How is SPG5A inherited and what is the risk to family members?
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