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PANK2 Gene Pantothenate kinase-associated neurodegeneration NGS Genetic Test

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PANK2 Gene Pantothenate kinase-associated neurodegeneration NGS Genetic Test

Short Name: PANK2 PKAN NGS

Also known as: PKAN Genetic Test, PANK2 Gene Mutation Analysis, Pantothenate Kinase-Associated Neurodegeneration NGS Panel

PANK2 Gene Pantothenate kinase-associated neurodegeneration 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 will be available in 3 to 4 weeks after the sample reaches the laboratory. You will be notified via SMS/email when the report is ready.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To confirm a clinical suspicion of PKAN, to identify pathogenic variants in the PANK2 gene, and to aid in genetic counseling and family planning.

Test Code
4436
CPT Code
81405
ICD Code
G23.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be available in 3 to 4 weeks after the sample reaches the laboratory. You will be notified via SMS/email when the report is ready.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Attend a genetic counseling session to draw a pedigree chart of family members affected with PANK2-related disease. Provide complete clinical history and any prior imaging or laboratory findings. No fasting is required.

Method: Venipuncture / FTA card blood spot

Step 2

Laboratory Analysis

For blood collection, a trained phlebotomist will draw a small volume of blood from a vein. For FTA card collection, a single drop of blood is applied to the card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be transported to the laboratory at ambient temperature. Reports will be shared through your chosen mode (online portal, email, WhatsApp).

Timeline: Reports will be available in 3 to 4 weeks after the sample reaches the laboratory. You will be notified via SMS/email when the report is ready.

Patient Instructions

1
Before the Test:Before the test, you will attend a genetic counseling session to discuss the purpose, potential outcomes, and implications of testing. A detailed family history will be taken to draw a pedigree. You may also undergo a clinical neurological examination and review any prior imaging (e.g., MRI).
2
During the Test:The test involves a simple blood draw or an FTA card blood spot. For blood, a small needle collects 2 mL of blood into an EDTA tube. For FTA card, a single drop of blood is placed on the card. No anesthesia is needed.
3
After the Test:You can leave the collection center or return home immediately. The sample is sent to the lab for NGS testing. Results are expected within 3-4 weeks. You may be asked to provide a follow-up appointment with a genetic counselor to review your result.

About This Test

Who Should Get This Test

To confirm a clinical suspicion of PKAN, to identify pathogenic variants in the PANK2 gene, and to aid in genetic counseling and family planning.

How to Prepare

  • No fasting required
  • Informed consent must be provided
  • Provide relevant clinical history and family pedigree
  • For FTA card sample, apply one drop of blood onto the designated circle and let it dry
  • For EDTA blood, ensure the tube is properly labeled and gently inverted to mix

Doctor's Notes

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

"Genetic counseling is essential before testing to understand the inheritance pattern and implications for family members."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 mL blood in EDTA vial OR 1 drop blood on FTA card
ContainerEDTA vial / FTA card
Collection MethodVenipuncture / FTA card blood spot

Sample Stability

Blood in EDTA: stable 72 hours at room temperature (15-25°C)
Extracted DNA: stable for 1 week at 2-8°C
FTA card: stable for months at room temperature
Sample Rejection Criteria:
  • Improperly labeled or unlabeled sample
  • Hemolyzed or clotted blood sample
  • Insufficient sample quantity
  • Sample leaked or damaged during transport

Understanding Your Results

Genetic testing of the PANK2 gene identifies sequence variants that cause pantothenate kinase-associated neurodegeneration (PKAN). The test result should be interpreted in the context of clinical symptoms, family history, and neuroimaging findings. A positive result confirms the diagnosis, while a negative result reduces the likelihood of PKAN due to PANK2 mutations but does not entirely exclude the condition.
📊

Pathogenic variant detected (heterozygous or homozygous)

Confirms the genetic diagnosis of PKAN. If two pathogenic variants are found, the disorder is inherited in an autosomal recessive pattern. Genetic counseling is recommended for family planning.

📊

Variant of uncertain significance (VUS) detected

A genetic variant was found but its clinical significance is not yet known. Additional testing of family members and further studies may be needed to clarify the pathogenicity.

📊

No pathogenic variant detected

Likely rules out PANK2 gene involvement. If clinical suspicion remains high, consider other genetic causes or further diagnostic workup such as brain MRI, iron studies, and metabolic testing.

⚠️ When to Consult a Doctor:

If you or your child have symptoms of dystonia, rigidity, tremors, speech difficulties, swallowing problems, vision loss, or cognitive decline, consult a neurologist. A clinical geneticist should also be consulted for genetic testing and counseling.

Limitations

  • ⚠NGS may not detect large deletions/duplications or deep intronic variants
  • ⚠A negative result does not rule out PKAN if clinical suspicion is high – additional testing such as MRI or biochemical studies may be needed
  • ⚠Results should be interpreted only by a qualified clinical geneticist in conjunction with clinical findings

Risks & Considerations

  • ●No significant physical risks associated with blood collection except minor bruising or bleeding at the puncture site
  • ●Psychological impact of receiving a diagnosis of a progressive neurogenetic disorder
  • ●Possible discovery of carrier status or unsuspected familial risk

Interfering Factors

  • ●Poor sample quality or quantity
  • ●Contamination during sample collection
  • ●Consanguinity may complicate interpretation
  • ●Recent blood transfusion (if using blood sample)

Compare With Similar Tests

TestPANK2 Gene Pantothenate kinase-associated neurodegeneration NGS Genetic TestTargeted PANK2 Mutation AnalysisWhole Exome Sequencing (WES)Neurological Disorders NGS PanelBrain MRI (Neuroimaging)
ComparisonPANK2 Gene Pantothenate kinase-associated neurodegeneration NGS Genetic Test

Frequently Asked Questions

What is the cost of the PANK2 gene NGS genetic test in India?
The test costs INR 20000 at DNA Labs India, which includes home sample collection, clinical report, and raw data files (FASTQ and VCF).
What is Pantothenate kinase-associated neurodegeneration (PKAN)?
PKAN is a rare inherited neurological disorder caused by mutations in the PANK2 gene, leading to progressive motor dysfunction, dystonia, vision problems, and cognitive decline.
Who should undergo this test?
Individuals with symptoms suggestive of PKAN, those with a family history of PANK2 mutations, or those with characteristic MRI findings (eye-of-the-tiger sign) should consider this test.
How is the sample collected?
The sample is collected as 2 mL blood in an EDTA vial, or a single blood spot on an FTA card. Extracted DNA can also be submitted.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are available in 3 to 4 weeks after the laboratory receives your sample.
Will I receive raw data files?
Yes, DNA Labs India is the only lab that provides raw FASTQ and VCF files along with the conclusive clinical report for complete transparency.
What is the inheritance pattern of PKAN?
PKAN is inherited in an autosomal recessive manner, meaning both parents must carry one mutated copy of the PANK2 gene for their child to be affected.
Can this test be performed during pregnancy?
Yes, prenatal testing can be arranged after genetic counseling. However, it is important to discuss the risks and benefits with a specialist.
Is this test covered by insurance?
Coverage varies depending on your insurance provider. Most private insurance plans require prior authorization. Please contact your insurance company or DNA Labs India for assistance.
What does a negative result mean?
A negative result means no pathogenic variant was detected in the PANK2 gene. This reduces the likelihood of PKAN but does not completely exclude it; clinical correlation is needed.
How do I book this test?
You can book online through the DNA Labs India website. A free home sample collection will be arranged in your city, and the test will be performed at our NABL accredited laboratory.
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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