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ZDHHC17 Gene Huntington disease, ZDHHC17 related NGS Genetic Test

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ZDHHC17 Gene Huntington disease, ZDHHC17 related NGS Genetic Test

Short Name: ZDHHC17 NGS Genetic Test

Also known as: ZDHHC17 gene sequencing, ZDHHC17-related Huntington disease genetic test, Huntington disease NGS panel for ZDHHC17

ZDHHC17 Gene Huntington disease, ZDHHC17 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) for ZDHHC17 gene, Sanger sequencing validation for detected variants on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are available in 3 to 4 weeks from the date of sample receipt. Raw data files (FASTQ, VCF) are also provided alongside the clinical report.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic or likely pathogenic sequence variants in the ZDHHC17 gene that may be associated with Huntington disease-like phenotype. It aids clinicians in establishing a molecular diagnosis, enabling proper genetic counseling, targeted treatment planning, and informed reproductive choices.

Test Code
4132
ICD Code
G10
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are available in 3 to 4 weeks from the date of sample receipt. Raw data files (FASTQ, VCF) are also provided alongside the clinical report.
Fasting Required
No
Method
Next Generation Sequencing (NGS) for ZDHHC17 gene, Sanger sequencing validation for detected variants
Step 1

Sample Collection

No special preparation is needed. Patients are advised to bring any prior genetic test reports and a valid identity proof. A pre-test genetic counseling session is recommended and is included as part of this test.

Method: Peripheral venipuncture or dried blood spot collection

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample from a vein in the arm. The procedure takes approximately 5 minutes. Alternatively, a one-drop blood sample may be collected on an FTA card for dry blood spot testing.

Step 3

Report Delivery

There are no activity restrictions after sample collection. Patients may resume normal daily activities immediately. The sample will be transported to the laboratory for NGS analysis.

Timeline: Reports are available in 3 to 4 weeks from the date of sample receipt. Raw data files (FASTQ, VCF) are also provided alongside the clinical report.

Patient Instructions

1
Before the Test:Consult with your doctor or genetic counselor prior to booking. Also, carry previous clinical records, imaging, and genetic reports if available.
2
During the Test:The test involves a simple blood draw. No special measures are needed.
3
After the Test:Report will be delivered in 3-4 weeks. Discuss the result report with a genetic counselor, especially if the result is positive or VUS.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic or likely pathogenic sequence variants in the ZDHHC17 gene that may be associated with Huntington disease-like phenotype. It aids clinicians in establishing a molecular diagnosis, enabling proper genetic counseling, targeted treatment planning, and informed reproductive choices.

How to Prepare

  • Blood sample should be collected using EDTA vacutainer for whole blood
  • If using FTA card, fill the circle completely with blood
  • For extracted DNA, ensure sufficient quantity (500 ng–2 µg) with integrity
  • Label the sample with patient name, unique ID, and date of collection

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic counseling is strongly recommended before and after this test, especially for presymptomatic testing and family planning discussions."

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 venous blood, or 5-10 µl dried blood spot, or 2-5 µg extracted DNA
ContainerEDTA vacutainer, FTA card, or sterile DNA tube
Collection MethodPeripheral venipuncture or dried blood spot collection

Sample Stability

Whole blood (EDTA) at 2–8°C
Dried blood spot on FTA card at room temperature
Extracted DNA at −20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrectly labeled sample
  • Sample in sodium fluoride or other non-recommended anticoagulant
  • FTA card not air-dried or contaminated

Understanding Your Results

The clinical report should be interpreted by a certified geneticist or neurologist. Variants are classified according to ACMG guidelines. The result is reported as negative (no pathogenic variant), positive (pathogenic/likely pathogenic variant detected), or variant of uncertain significance (VUS).
📊

Negative: No pathogenic variant detected

The ZDHHC17 gene is not found to carry a disease-causing variant. This does not rule out HTT-repeat expansion or other genetic causes of Huntington disease-like phenotypes.

📊

Positive: Pathogenic or likely pathogenic variant detected

The detected ZDHHC17 variant is associated with an increased risk/development of ZDHHC17-related neurological disease. Genetic counseling and family cascade testing are recommended.

📊

Variant of Uncertain Significance (VUS)

A variant was found but its clinical significance is not yet established. Functional studies and familial segregation analysis may help clarify.

⚠️ When to Consult a Doctor:

If you or a family member are experiencing unexplained chorea, muscle jerking, progressive cognitive decline, or mood changes, consult a neurologist. Also consult a genetic counselor for accurate interpretation of test results and to discuss the implications of a positive result.

Limitations

  • ⚠This test only analyzes the ZDHHC17 gene and does not detect HTT CAG repeat expansions
  • ⚠Mutations in regulatory regions (deep intronic or promoter regions) may not be identified
  • ⚠Large structural rearrangements, though rare, may not be resolved by NGS alone
  • ⚠A negative result does not completely exclude the diagnosis of Huntington disease, as other genes may be involved

Risks & Considerations

  • ●Any blood draw carries a minimal risk of bruising, bleeding, or infection at the puncture site
  • ●The main risk is informational: the result may identify an inherited genetic condition, potentially causing psychological or familial distress
  • ●There is a low risk of incidental findings if other genes are analyzed in a broader panel, though this test is targeted to ZDHHC17

Interfering Factors

  • ●Inadequate DNA quality from the sample can affect sequencing success
  • ●Contamination with maternal DNA in prenatal samples may interfere with the result
  • ●The presence of homologous pseudogenes could affect alignment, though bioinformatics filters are applied
  • ●Rare deep intronic variants not covered by standard NGS may be missed

Compare With Similar Tests

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Frequently Asked Questions

What is the ZDHHC17 gene?
ZDHHC17 is a gene on chromosome 12 that encodes for palmitoyltransferase, an enzyme that adds palmitate groups to proteins including huntingtin. This modification is important for protein function and localization in neurons.
How is ZDHHC17 related to Huntington disease?
Variants in ZDHHC17 may disrupt palmitoylation of huntingtin and other proteins, contributing to neuronal dysfunction and a Huntington disease-like phenotype. However, unlike the HTT CAG repeat expansion, ZDHHC17 mutations are rare and not fully understood.
Who should consider this genetic test?
Individuals with symptoms suggestive of Huntington disease but a negative HTT repeat test, and those with a known family history of ZDHHC17-related disease. Presymptomatic testing is only offered after genetic counseling.
What is NGS technology?
Next Generation Sequencing (NGS) is a high-throughput method that sequences millions of DNA fragments simultaneously. It allows detailed analysis of targeted genes, exomes, or whole genomes with high accuracy.
What sample is required for this test?
You can provide 3-5 ml blood in an EDTA tube, a dried blood spot on an FTA card, or 1-2 micrograms of extracted DNA. Home sample collection is available at no extra cost in selected cities.
Is fasting required before the ZDHHC17 genetic test?
No, fasting is not required. You can eat and drink normally before the sample collection. The test is completely DNA-based and not affected by recent food intake.
How long does it take to get the reports?
The clinical report is typically available within 3 to 4 weeks after the laboratory receives the sample. You will also receive raw data files (FASTQ and VCF) along with the report.
Can this test diagnose typical Huntington disease?
This test is specifically for ZDHHC17 gene variants. It should not be used as a first-line test for classical Huntington disease, which is usually diagnosed by detecting CAG repeat expansion in the HTT gene. Your doctor will decide the appropriate test.
What does a positive result mean?
A positive result means a disease-causing pathogenic variant was found in the ZDHHC17 gene. This is associated with the development of neurological symptoms. Genetic counseling is essential to discuss family implications and management.
What does a negative result mean?
A negative result indicates no pathogenic variant was detected in the ZDHHC17 coding regions analyzed. It does not fully rule out ZDHHC17 regulatory mutations or other genetic conditions, so further evaluation may still be needed.
Is genetic counseling recommended before taking this test?
Yes, genetic counseling is strongly recommended. DNA Labs India includes a pre-test genetic counseling session where a pedigree chart is drawn and expectations are explained. This ensures informed consent and helps manage the emotional impact of results.
What is the cost of the ZDHHC17 NGS genetic test?
The test costs INR 20,000, which includes home sample collection in eligible cities across India.
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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