Skip to main content
DNA Labs India

SNAI2 Gene Piebaldism NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SNAI2 Gene Piebaldism NGS Genetic Test

Short Name: SNAI2 Piebaldism NGS Test

Also known as: SNAI2 Gene Mutation Analysis, Piebaldism Genetic Panel, SNAI2 NGS Sequencing Test, Piebaldism DNA Test, SNAI2 Molecular Genetic Test

SNAI2 Gene Piebaldism 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 3 to 4 Weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.

DermatologistAll Ages🏠 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

The purpose of the SNAI2 Gene Piebaldism NGS Genetic Test is to identify pathogenic mutations in the SNAI2 gene that cause piebaldism. This test confirms clinical diagnosis, differentiates piebaldism from other depigmentation disorders, enables genetic counseling for affected families, and supports informed family planning decisions.

Test Code
5112
CPT Code
81479
ICD Code
Q82.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks from sample receipt at the laboratory
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation (if required)
Step 1

Sample Collection

No special preparation or fasting is required. A genetic counseling session is recommended prior to sample collection to draw a pedigree chart of family members affected with piebaldism. Provide complete clinical history of the patient.

Method: Venipuncture / FTA Card Spot

Step 2

Laboratory Analysis

A blood sample of 3-5 mL will be collected via venipuncture into an EDTA vacutainer, or alternatively one drop of blood can be spotted onto an FTA card. The procedure takes approximately 5-10 minutes.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball for 3-5 minutes. The sample will be transported under appropriate conditions to the laboratory for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks from sample receipt at the laboratory

Patient Instructions

1
Before the Test:No fasting is required. A genetic counseling session is recommended to document family history and draw a pedigree chart. Provide complete clinical history of the patient who is going for the SNAI2 Gene Piebaldism NGS Genetic Test.
2
During the Test:A blood sample (3-5 mL) is collected via venipuncture into an EDTA tube or one drop of blood is spotted onto an FTA card. The sample is sent to the molecular genetics laboratory for DNA extraction and NGS analysis.
3
After the Test:Results are available within 3 to 4 weeks. A genetic counseling session is recommended after receiving results to discuss implications, recurrence risks, and family planning options.

About This Test

Who Should Get This Test

The purpose of the SNAI2 Gene Piebaldism NGS Genetic Test is to identify pathogenic mutations in the SNAI2 gene that cause piebaldism. This test confirms clinical diagnosis, differentiates piebaldism from other depigmentation disorders, enables genetic counseling for affected families, and supports informed family planning decisions.

How to Prepare

  • No fasting required before sample collection
  • Provide complete clinical and family history at the time of collection
  • Genetic counseling session recommended before testing
  • Blood sample collected in EDTA vacutainer or FTA card
  • Sample should be stored at ambient room temperature during transport
  • Avoid hemolysis during blood collection

Doctor's Notes

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

"Piebaldism is a rare autosomal dominant disorder of melanocyte development. Genetic confirmation through SNAI2 gene analysis using NGS technology is essential for accurate diagnosis, distinguishing piebaldism from other depigmenting conditions such as vitiligo, and guiding appropriate genetic counseling for affected families."

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
ContainerEDTA Vacutainer / FTA Card
Collection MethodVenipuncture / FTA Card Spot

Sample Stability

EDTA Blood at Ambient Temperature
EDTA Blood at 2-8°C
Extracted DNA at -20°C
FTA Card at Room Temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Samples collected in incorrect anticoagulant tubes
  • Insufficient sample volume
  • Samples without proper labeling or identification
  • Contaminated or degraded DNA samples

Understanding Your Results

The results of the SNAI2 Gene Piebaldism NGS Genetic Test are interpreted by a qualified clinical geneticist. A positive result indicates the presence of a pathogenic or likely pathogenic variant in the SNAI2 gene, confirming a molecular diagnosis of piebaldism. A negative result means no pathogenic variants were detected in the SNAI2 gene, though this does not entirely exclude piebaldism if caused by mutations in other genes.
📊

Pathogenic Variant Detected

Confirms molecular diagnosis of SNAI2-related piebaldism. Genetic counseling and family screening recommended.

📊

Likely Pathogenic Variant Detected

Strong evidence for SNAI2-related piebaldism. Clinical correlation and family studies recommended.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was identified but its clinical significance is currently unknown. Further testing and clinical follow-up may be needed.

📊

Likely Benign Variant

The identified variant is unlikely to be the cause of piebaldism. Clinical correlation is advised.

📊

No Pathogenic Variant Detected

No disease-causing mutations in the SNAI2 gene were identified. Consider testing for other genes associated with piebaldism such as KIT or KITLG.

⚠️ When to Consult a Doctor:

Consult a dermatologist or clinical geneticist if your child is born with white patches of skin or hair, if there is a family history of piebaldism, or if you notice progressive depigmentation that needs to be differentiated from vitiligo or albinism. Genetic counseling is recommended before and after testing.

Limitations

  • ⚠This test specifically targets the SNAI2 gene and may not detect mutations in other genes associated with piebaldism such as KIT or KITLG
  • ⚠Copy number variations (large deletions or duplications) may not be fully detected by standard NGS sequencing
  • ⚠Variants of uncertain significance (VUS) may be identified and may require further investigation
  • ⚠This test does not assess for somatic mosaicism in all cases
  • ⚠A negative result does not completely exclude genetic causes of depigmentation

Risks & Considerations

  • ●Minor bruising or discomfort at the blood collection site
  • ●Emotional impact of genetic diagnosis on the patient and family
  • ●Possibility of identifying variants of uncertain significance requiring further evaluation

Interfering Factors

  • ●Degraded or insufficient DNA quality in the sample
  • ●Recent blood transfusion within the past 30 days
  • ●Contamination during sample collection or transport
  • ●Hemolyzed blood samples may affect DNA extraction quality

Compare With Similar Tests

TestSNAI2 Gene Piebaldism NGS Genetic TestKIT Gene Piebaldism NGS Genetic TestWhole Exome Sequencing (WES)Waardenburg Syndrome NGS PanelVitiligo Genetic Panel
ComparisonSNAI2 Gene Piebaldism NGS Genetic Test

Frequently Asked Questions

What is the SNAI2 Gene Piebaldism NGS Genetic Test?
The SNAI2 Gene Piebaldism NGS Genetic Test is a specialized molecular test that uses next-generation sequencing (NGS) technology to detect mutations in the SNAI2 gene, which is responsible for causing piebaldism, a rare genetic disorder characterized by white patches of skin and hair.
What is piebaldism and how does it differ from vitiligo?
Piebaldism is a congenital genetic disorder caused by mutations in genes such as SNAI2, resulting in white patches of skin and hair that are usually present at birth. Vitiligo, on the other hand, is an acquired autoimmune condition where melanocytes are progressively destroyed, leading to depigmentation that typically develops later in life. Genetic testing can help differentiate between the two conditions.
What sample is required for the SNAI2 Gene Piebaldism NGS Genetic Test?
The test requires a blood sample (3-5 mL collected in an EDTA vacutainer), extracted DNA, or one drop of blood on an FTA card. No fasting is required before sample collection.
How much does the SNAI2 Gene Piebaldism NGS Genetic Test cost?
The cost of the SNAI2 Gene Piebaldism NGS Genetic Test at DNA Labs India is INR 20,000. This includes sample collection, NGS sequencing, genetic analysis, and report generation. Free home sample collection is available across India.
How long does it take to get the results of the SNAI2 Gene Piebaldism NGS Genetic Test?
The results of the SNAI2 Gene Piebaldism NGS Genetic Test are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via online portal, email, or WhatsApp.
Is the SNAI2 Gene Piebaldism NGS Genetic Test available with home sample collection?
Yes, DNA Labs India offers free home sample collection for the SNAI2 Gene Piebaldism NGS Genetic Test. This service is available in numerous cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and many more.
Who should get the SNAI2 Gene Piebaldism NGS Genetic Test?
This test is recommended for individuals who present with white patches of skin and hair at birth or early life, those with a family history of piebaldism, individuals needing differentiation from vitiligo or albinism, and families seeking genetic counseling or family planning guidance.
Is piebaldism inherited?
Yes, piebaldism follows an autosomal dominant inheritance pattern, meaning a single copy of the mutated gene from one parent is sufficient to cause the condition. Each child of an affected parent has a 50% chance of inheriting the mutation. Genetic testing can confirm the specific mutation in a family.
What does a positive result mean for the SNAI2 Gene Piebaldism NGS Genetic Test?
A positive result means a pathogenic or likely pathogenic mutation in the SNAI2 gene has been identified, confirming a molecular diagnosis of piebaldism. This information is valuable for clinical management, genetic counseling, and family planning. A genetic counselor will help interpret the implications.
Can the SNAI2 Gene Piebaldism NGS Genetic Test be used for prenatal diagnosis?
Yes, if the specific SNAI2 mutation has been identified in an affected family member, prenatal testing or preimplantation genetic testing (PGT) may be available for future pregnancies. Consult a clinical geneticist for guidance on prenatal testing options.
Is the SNAI2 Gene Piebaldism NGS Genetic Test covered by insurance in India?
Genetic testing is generally not covered under government health schemes such as PMJAY, CGHS, ECHS, or ESIC. Private insurance coverage depends on individual policy terms. It is advisable to check with your insurance provider regarding reimbursement eligibility for genetic tests.
What happens if the SNAI2 Gene Piebaldism NGS Genetic Test result is negative?
A negative result means no pathogenic mutations were detected in the SNAI2 gene. However, this does not completely exclude piebaldism, as the condition can also be caused by mutations in other genes such as KIT or KITLG. Your geneticist may recommend additional genetic testing or alternative diagnostic approaches.
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.

Related Tests

Nx Gen Sequencing: Albinism Test

₹28,665

ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic Test

₹20,000

COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test

₹20,000

KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test

₹20,000

LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test

₹20,000

ENPP1 Gene Cole disease NGS Genetic Test

₹20,000
For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.