Hereditary Spastic Paraplegia Gene Panel Test: Booking, Price, and Results

The hereditary spastic paraplegia gene panel test is a specialised genetic test that examines multiple genes associated with hereditary spastic paraplegia (HSP), a group of inherited neurological conditions that cause progressive stiffness and weakness in the legs. The test uses next-generation sequencing (NGS), a technology that reads DNA in detail, to identify disease-causing mutations across a large number of genes in a single run. It is also referred to as the HSP gene panel or Spastic Paraplegia Gene Panel. A chorionic villus (CVS) sample is used for this test.

Doctors order this test when a patient's symptoms or family history suggest HSP. It helps confirm a diagnosis and guides further management.

Common Symptoms That May Require This Test

The following symptoms often prompt a doctor to recommend the hereditary spastic paraplegia gene panel test:

• Progressive stiffness (spasticity) in the legs
• Difficulty walking or a noticeably changed gait
• Frequent tripping or stumbling
• Walking on the toes (toe-walking)
• Exaggerated reflexes (hyperreflexia)
• Reduced ability to feel vibrations in the lower limbs
• Reduced bladder control

Conditions This Test Can Help Detect

This panel can assist in identifying the following conditions:

• Pure (uncomplicated) HSP, where symptoms are limited to lower limb spasticity, weakness, and bladder involvement
• Complex (complicated) HSP, which includes additional features such as seizures, intellectual disability, ataxia (loss of coordination), peripheral neuropathy, or vision and hearing problems
• More than 80 distinct genetic subtypes of HSP
• Related conditions such as adrenoleukodystrophy and certain metabolic disorders

The hereditary spastic paraplegia gene panel test may use different sample types depending on the clinical indication. Home collection may be available for peripheral blood or saliva samples. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision. Genetic counselling may be recommended before and after testing to help understand the results and their implications.

Peripheral Blood Collection

1. Genetic diagnostic or healthcare team confirms the patient’s identity before sample collection.
2. The skin over the collection site is cleaned with an antiseptic solution.
3. A small blood sample is collected from a vein in the arm using a sterile needle.
4. The sample is collected in an EDTA tube (purple/lavender-top tube).
5. The sample is labelled and transported to the laboratory.

Buccal Swab/Saliva Collection

1. A healthcare professional or trained staff member collects the sample.
2. For a buccal swab, a soft swab is gently rubbed inside the cheek to collect cells.
3. For saliva collection, the patient provides a saliva sample in a sterile container.
4. The sample is labelled and sent to the laboratory.

Chorionic Villus Sampling (CVS)

1. The doctor explains the procedure and obtains informed consent before collection.
2. A trained specialist collects a small placental tissue sample called chorionic villi under ultrasound guidance.
3. The sample is placed in a sterile container and transported to the laboratory.

Amniotic Fluid Collection

1. The abdomen is cleaned with an antiseptic solution before the procedure.
2. Under ultrasound guidance, a trained specialist collects a small amount of amniotic fluid (fluid surrounding the baby during pregnancy) using a sterile needle.
3. The sample is transferred to a sterile tube and sent to the laboratory.

Results from this test are qualitative, meaning they do not produce numerical values. Instead, each variant identified is classified into one of the categories below. Always review your results with a qualified doctor or genetic counsellor.

These categories follow the guidelines of the American College of Medical Genetics and Genomics (ACMG). Your doctor will interpret your results based on your clinical history, family background, and overall health. Always consult a qualified healthcare professional for personalised medical advice.

Because HSP is a genetic condition, it cannot be prevented through lifestyle changes. However, the following general steps can support overall well-being after a diagnosis:

• Regular physical therapy and guided exercise can help maintain leg strength and mobility
• Genetic counselling after receiving results can support informed family planning decisions
• Early diagnosis allows for timely symptom management and appropriate specialist referral

1. Select the test on the Lupin Diagnostics website.
2. Choose your city and preferred time slot.
3. Home collection may be available for eligible sample types such as peripheral blood or saliva. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision.
4. Receive your report via email or WhatsApp within the stipulated turnaround time.

Home Collection

Lupin Diagnostics offers home collection across cities in India for eligible sample types used in this test. Specialised prenatal samples such as CVS or amniotic fluid require collection at authorised healthcare facilities. All samples are processed in NABL-accredited laboratories by experienced professionals, and digital reports are shared via email or WhatsApp once ready.