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KANK1 Gene Cerebral Palsy Type 2, Spastic Quadriplegic NGS Genetic Test

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KANK1 Gene Cerebral Palsy Type 2, Spastic Quadriplegic NGS Genetic Test

Short Name: KANK1 NGS

Also known as: KANK1 Gene Test, Cerebral Palsy Type 2 Genetic Test, Spastic Quadriplegic Cerebral Palsy NGS Test

KANK1 Gene Cerebral Palsy Type 2, Spastic Quadriplegic 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 within 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect disease-associated variants in the KANK1 gene in individuals with suspected spastic quadriplegic cerebral palsy type 2. Genetic confirmation supports early diagnosis, recurrence risk counselling, and personalised management.

Test Code
3955
ICD Code
G80.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended before the test to document clinical history and draw a pedigree chart of family members affected with KANK1-related cerebral palsy.

Method: Venous blood collection or FTA card spot

Step 2

Laboratory Analysis

A blood sample is collected by an experienced phlebotomist. If an FTA card is used, only one drop of blood is required.

Step 3

Report Delivery

No special precautions are needed after collection. The sample is transported to the laboratory under recommended conditions.

Timeline: Reports are generally available within 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed. Provide relevant clinical history and attend genetic counselling if advised.
2
During the Test:You may be asked to provide a blood sample or FTA card sample; the process is quick and minimally invasive.
3
After the Test:You can resume normal activities. The lab will process the sample and share the report once available.

About This Test

Who Should Get This Test

The purpose of this test is to detect disease-associated variants in the KANK1 gene in individuals with suspected spastic quadriplegic cerebral palsy type 2. Genetic confirmation supports early diagnosis, recurrence risk counselling, and personalised management.

How to Prepare

  • Ensure the test request form and clinical notes are complete
  • Use an EDTA vacutainer for blood sample collection
  • For FTA card collection, apply a single drop of blood on the marked circles
  • Label the sample carefully with patient name, ID, and collection date
  • Keep the FTA card dry and protected from moisture

Doctor's Notes

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

"Genetic confirmation can help families understand the cause of cerebral palsy and access tailored medical and developmental support."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per collection kit requirement
ContainerEDTA vacutainer or FTA card
Collection MethodVenous blood collection or FTA card spot

Sample Stability

Whole blood in EDTA: transport at 2-8°C
Extracted DNA: store at -20°C
FTA card: store at room temperature, protect from humidity and direct sunlight
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Mismatched patient identification details
  • Leaking or damaged sample container
  • Insufficient DNA quantity or poor quality
  • Sample submitted without clinical history or consent

Understanding Your Results

Interpretation is performed by clinical geneticists using ACMG-type guidelines and the clinical details provided. The report should be correlated with the patient's symptoms and family history.
📊

Positive

A pathogenic or likely pathogenic variant was detected in the KANK1 gene, confirming the genetic diagnosis in the appropriate clinical context.

📊

Negative

No pathogenic variant was detected in the KANK1 gene. Other genetic and non-genetic causes should be considered.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found, but its clinical significance is unclear. Additional testing of family members may help reclassify the variant.

⚠️ When to Consult a Doctor:

Please consult a neurologist, pediatric neurologist, or clinical geneticist if the test result is positive or uncertain, or if you have concerns about the clinical features.

Limitations

  • This test is limited to the KANK1 gene and reportable regions; deep intronic and regulatory variants may not be covered
  • Chromosomal rearrangements may not be reliably detected by this test
  • Variants of uncertain significance may require additional family studies
  • A negative result does not rule out other genetic or non-genetic causes of cerebral palsy

Risks & Considerations

  • Mild pain or bruising at the blood collection site
  • Dizziness during or after blood collection
  • Very small risk of infection at the venipuncture site

Interfering Factors

  • Low-quality DNA may reduce sequencing depth
  • Incorrect sample labeling or contaminated blood may affect results
  • Presence of homologous sequences may complicate variant analysis
  • Incomplete clinical information may limit interpretation

Compare With Similar Tests

TestKANK1 Gene Cerebral Palsy Type 2, Spastic Quadriplegic NGS Genetic TestTargeted KANK1 Gene NGSCerebral Palsy Multigene NGS PanelWhole Exome Sequencing
ComparisonKANK1 Gene Cerebral Palsy Type 2, Spastic Quadriplegic NGS Genetic Test

Frequently Asked Questions

What is the KANK1 gene cerebral palsy type 2 spastic quadriplegic NGS genetic test?
It is a targeted next-generation sequencing test that analyzes the KANK1 gene to identify disease-associated variants linked to spastic quadriplegic cerebral palsy type 2.
What is the cost of this test at DNA Labs India?
The test costs INR 20,000 / Rs 20000.0. DNA Labs India offers free home sample collection for online bookings.
What sample is required for the KANK1 gene test?
Blood, extracted DNA, or a single drop of blood on an FTA card can be used for this test.
Is fasting required before the test?
No, fasting is not required. Sample collection can be done at any time.
Who should get this genetic test?
Individuals with clinical features of spastic quadriplegic cerebral palsy, those with a family history of KANK1-related CP, or those needing recurrence risk counselling may be eligible.
What does the NGS test look for?
The test looks for pathogenic variants, likely pathogenic variants, and copy number variations in the KANK1 gene.
Is genetic counselling needed before the test?
Yes, a genetic counselling session is recommended to draw a pedigree chart and document family history before testing.
How will I receive the report?
Reports are delivered through the online portal, email, and WhatsApp.
Will I receive raw data files with the report?
Yes, DNA Labs India shares raw data files including FASTQ and VCF along with the clinical test report.
Can this test confirm spastic quadriplegic cerebral palsy?
A positive result confirms a KANK1 genetic cause. A negative result does not rule out other genetic or non-genetic causes.
What is a variant of uncertain significance (VUS)?
A VUS is a genetic change whose impact on health is not yet clear. More family studies are usually needed to determine its significance.
What should I do after getting the result?
Consult a neurologist or clinical geneticist for personalized treatment, surveillance, and genetic counselling.
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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