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FLRT1 Gene SPG68, FLRT1 related NGS Genetic Test

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FLRT1 Gene SPG68, FLRT1 related NGS Genetic Test

Short Name: FLRT1 Gene SPG68 Test

Also known as: FLRT1 Mutation Analysis, SPG68 Genetic Test, Hereditary Spastic Paraplegia Type 68 Test, FLRT1 NGS Sequencing Test, Fibronectin Leucine-Rich Transmembrane Protein 1 Gene Test

FLRT1 Gene SPG68, FLRT1 related 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 Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the DNA Labs India online portal, email, and WhatsApp. Urgent processing may be available upon request at additional cost.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS) Genetic TestUnisexAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The primary purpose of the FLRT1 Gene SPG68 NGS Genetic Test is to confirm or rule out a molecular diagnosis of Hereditary Spastic Paraplegia Type 68 (SPG68) in individuals exhibiting clinical features of progressive lower limb spasticity and weakness. This test enables precise identification of pathogenic or likely pathogenic variants in the FLRT1 gene, facilitating accurate diagnosis, differential diagnosis from other forms of hereditary spastic paraplegia (SPG), informed genetic counselling for affected families, carrier screening for at-risk family members, and guidance for clinical management and potential therapeutic strategies.

Test Code
1829
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 the date of sample receipt at the laboratory. Reports are delivered via the DNA Labs India online portal, email, and WhatsApp. Urgent processing may be available upon request at additional cost.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session is recommended before sample collection. The counsellor will draw a pedigree chart of family members affected with SPG68 or related neurological disorders. Provide complete clinical history of the patient including symptom onset, progression, and family history. No fasting is required. Inform the laboratory about any recent blood transfusions.

Method: Venipuncture or Finger-prick (FTA Card)

Step 2

Laboratory Analysis

A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender top) vacutainer tube. Alternatively, one drop of blood can be spotted on an FTA card. The sample is collected under sterile conditions and labeled with the patient's details. Home sample collection is available at no additional charge for online bookings.

Step 3

Report Delivery

The blood sample is transported to the laboratory under ambient room temperature conditions. DNA is extracted from the sample and prepared for next-generation sequencing. Results are typically available within 3 to 4 weeks. The clinical report, along with raw data files (FASTQ and VCF), will be shared via the online portal, email, or WhatsApp.

Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the DNA Labs India online portal, email, and WhatsApp. Urgent processing may be available upon request at additional cost.

Patient Instructions

1
Before the Test:Schedule a genetic counselling session to discuss the implications of testing and to create a family pedigree chart. Provide complete clinical history including symptom onset, progression, family history of neurological disorders, and any prior genetic testing results. No fasting or special preparation is required. Inform the laboratory if the patient has received a blood transfusion in the last 30 days.
2
During the Test:A blood sample (3-5 mL in EDTA tube) or a single blood drop on an FTA card is collected by a trained phlebotomist. Home sample collection is available at no additional cost. The collection process takes approximately 5-10 minutes and involves minimal discomfort similar to a routine blood draw.
3
After the Test:After sample collection, normal activities can be resumed immediately. There are no post-collection restrictions. The sample undergoes DNA extraction, NGS library preparation, sequencing, bioinformatics analysis, and clinical interpretation. Results are delivered within 3 to 4 weeks along with raw data files (FASTQ, VCF) and a comprehensive clinical report.

About This Test

Who Should Get This Test

The primary purpose of the FLRT1 Gene SPG68 NGS Genetic Test is to confirm or rule out a molecular diagnosis of Hereditary Spastic Paraplegia Type 68 (SPG68) in individuals exhibiting clinical features of progressive lower limb spasticity and weakness. This test enables precise identification of pathogenic or likely pathogenic variants in the FLRT1 gene, facilitating accurate diagnosis, differential diagnosis from other forms of hereditary spastic paraplegia (SPG), informed genetic counselling for affected families, carrier screening for at-risk family members, and guidance for clinical management and potential therapeutic strategies.

How to Prepare

  • Collect 3-5 mL of venous blood in an EDTA (lavender top) vacutainer under aseptic conditions
  • Alternatively, spot one drop of blood on an FTA card and allow it to dry completely
  • Label the sample clearly with patient name, date of birth, sample date, and unique ID
  • Transport the sample at ambient room temperature; do not freeze
  • Ensure the sample reaches the laboratory within 48 hours of collection
  • Avoid hemolysis by using appropriate needle gauge and gentle mixing after collection

Doctor's Notes

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

"Hereditary Spastic Paraplegia Type 68 caused by FLRT1 mutations is a rare but clinically significant cause of progressive lower limb spasticity. Accurate molecular diagnosis through NGS-based genetic testing is essential to differentiate SPG68 from other forms of hereditary spastic paraplegia and to guide appropriate clinical management. I recommend this test for any patient presenting with progressive spastic paraparesis of unknown etiology, especially when there is a positive family history suggestive of autosomal recessive inheritance. Early genetic diagnosis enables timely genetic counselling, physiotherapy planning, and screening of at-risk family members."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample Volume3-5 mL whole blood in EDTA tube
ContainerEDTA (Lavender Top) Vacutainer or FTA Card
Collection MethodVenipuncture or Finger-prick (FTA Card)

Sample Stability

Whole blood in EDTA at ambient temperature
Extracted DNA at 2-8°C
Extracted DNA at -20°C
Blood on FTA card at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume (less than 2 mL whole blood)
  • Improperly labeled or unlabeled sample
  • Sample collected in incorrect tube type (non-EDTA)
  • Sample older than stability period at time of receipt
  • Severely degraded DNA with insufficient quality metrics

Understanding Your Results

The FLRT1 Gene SPG68 NGS Genetic Test results are interpreted by a clinical geneticist in the context of the patient's clinical presentation and family history. A positive result indicating the presence of pathogenic or likely pathogenic variants in the FLRT1 gene confirms the molecular diagnosis of SPG68. A negative result does not completely exclude hereditary spastic paraplegia, as mutations in other genes can cause similar clinical features. Variants of uncertain significance (VUS) require further evaluation and may be reclassified as new scientific evidence becomes available.
📊

Pathogenic or Likely Pathogenic Variant Detected

Confirms molecular diagnosis of SPG68 (Hereditary Spastic Paraplegia Type 68). Genetic counselling is recommended for the patient and family members. Carrier testing for parents and at-risk relatives should be considered.

📊

No Pathogenic Variant Detected

SPG68 is unlikely but not definitively excluded. Clinical correlation is essential. Consider expanded hereditary spastic paraplegia gene panel testing or whole exome sequencing if clinical suspicion remains high.

📊

Variant of Uncertain Significance (VUS) Identified

The detected variant cannot be definitively classified as pathogenic or benign at this time. Clinical correlation, segregation analysis in the family, and periodic re-evaluation as new data emerge are recommended.

📊

Benign or Likely Benign Variant Detected

The detected variant is considered a normal genetic variation and is not associated with SPG68. No clinical action is required for this finding.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or your child experience progressive difficulty walking, lower limb stiffness or spasticity, unsteady gait, foot drop, or urinary symptoms suggestive of hereditary spastic paraplegia. Early consultation is particularly important if there is a family history of similar neurological symptoms. If your genetic test result is positive, contains a VUS, or if you need help understanding your report, schedule a genetic counselling session to discuss implications for treatment, family planning, and screening of at-risk relatives.

Limitations

  • This test specifically targets the FLRT1 gene; other genetic causes of hereditary spastic paraplegia will not be detected by this single-gene test
  • Novel or rare variants of uncertain significance (VUS) may be identified that cannot be definitively classified at the time of testing
  • Deep intronic variants, regulatory region mutations, and mitochondrial DNA variants are not reliably detected
  • This test does not detect trinucleotide repeat expansions or balanced chromosomal rearrangements
  • Results must always be interpreted in conjunction with clinical findings and family history by a qualified healthcare professional

Risks & Considerations

  • Minimal physical risk – minor bruising or discomfort at the venipuncture site
  • Potential psychological impact of receiving a genetic diagnosis or VUS result
  • Possible implications for family members who may be carriers or at risk
  • Emotional stress related to genetic testing outcomes; genetic counselling is recommended before and after testing

Interfering Factors

  • Degraded or low-quality DNA may affect sequencing accuracy and coverage
  • Contamination during sample collection or processing may produce erroneous results
  • Recent blood transfusion (within 30 days) may interfere with DNA analysis
  • Presence of inhibitors in the sample may reduce PCR amplification efficiency

Compare With Similar Tests

TestFLRT1 Gene SPG68, FLRT1 related NGS Genetic TestFLRT1 Gene SPG68 NGS Genetic TestHereditary Spastic Paraplegia (HSP) Gene PanelWhole Exome Sequencing (WES)
ComparisonFLRT1 Gene SPG68, FLRT1 related NGS Genetic Test

Frequently Asked Questions

What is the FLRT1 Gene SPG68 NGS Genetic Test?
The FLRT1 Gene SPG68 NGS Genetic Test is a next-generation sequencing-based diagnostic test that analyzes the FLRT1 (Fibronectin Leucine-Rich Transmembrane Protein 1) gene for mutations associated with Hereditary Spastic Paraplegia Type 68 (SPG68). It provides comprehensive sequencing of the gene with high accuracy and sensitivity.
What is SPG68 and how does it affect the body?
SPG68, or Hereditary Spastic Paraplegia Type 68, is a rare genetic neurological disorder caused by mutations in the FLRT1 gene. It primarily affects the nervous system, leading to progressive spasticity and weakness of the lower limbs, difficulty walking, foot drop, unsteady gait, and urinary symptoms. Symptoms typically begin in early childhood and worsen over time.
What sample is required for this genetic test?
The test requires either 3-5 mL of venous blood collected in an EDTA (lavender top) vacutainer tube, extracted DNA, or one drop of blood spotted on an FTA card. Home sample collection is available at no additional cost across India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. The report is shared via the online portal, email, and WhatsApp along with raw data files (FASTQ and VCF).
What is the cost of the FLRT1 Gene SPG68 NGS Genetic Test?
The cost of the FLRT1 Gene SPG68 NGS Genetic Test at DNA Labs India is INR Rs 20000.0. This includes sample collection, NGS sequencing, bioinformatics analysis, variant interpretation, clinical report, raw data files (FASTQ, VCF), and a genetic counselling session. A special discounted price of Rs 20000 is available for online bookings across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings of the FLRT1 Gene SPG68 NGS Genetic Test across India. A trained phlebotomist will visit your home at a scheduled time to collect the blood sample. This service is available in all major cities and towns across the country.
What are the symptoms of SPG68 that warrant this test?
Key symptoms of SPG68 include progressive difficulty walking, stiffness and muscle weakness in the legs, unsteady gait, foot drop (difficulty lifting the front part of the foot), urinary urgency and incontinence. These symptoms typically begin in early childhood and progressively worsen. If you or your child experience these symptoms, consult a neurologist for evaluation.
How is SPG68 inherited?
SPG68 follows an autosomal recessive inheritance pattern. This means that an affected individual must inherit two copies of the mutated FLRT1 gene — one from each parent. Parents who carry one copy of the mutation are typically unaffected carriers. When two carriers have a child, there is a 25% chance the child will be affected with SPG68.
What happens if a pathogenic mutation is found in my FLRT1 gene?
If a pathogenic or likely pathogenic mutation is detected, it confirms the molecular diagnosis of SPG68. Your healthcare provider and genetic counsellor will discuss the implications, recommend appropriate management strategies including physiotherapy, screen at-risk family members through carrier testing, and provide guidance on family planning options.
Can this test be performed on children?
Yes, the FLRT1 Gene SPG68 NGS Genetic Test can be performed on individuals of all ages, including children and infants. Since SPG68 symptoms typically begin in early childhood, early genetic testing can facilitate timely diagnosis and intervention. Parental or guardian consent is required for minors.
What files and reports are provided with this test?
DNA Labs India is the only lab that provides complete transparency with every genetic test. Along with the conclusive clinical test report, you will receive raw data files in FASTQ format (raw sequencing reads) and VCF format (variant call file listing all detected genetic variants). These files can be used for second opinions or future re-analysis.
Is genetic counselling included with this test?
Yes, a genetic counselling session is included as part of the FLRT1 Gene SPG68 NGS Genetic Test at DNA Labs India. The pre-test counselling session helps draw a pedigree chart of family members affected with SPG68 or related conditions, explains the testing process, and discusses potential outcomes. Post-test counselling is also available to help interpret and understand the results.
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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