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PCSK9 Gene Hypercholesterolemia autosomal dominant type 3 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PCSK9 Gene Hypercholesterolemia autosomal dominant type 3 NGS Genetic Test

Short Name: PCSK9 Gene NGS Test

Also known as: Familial Hypercholesterolemia Type 3, Autosomal Dominant Hypercholesterolemia Type 3, ADH3, PCSK9-Related Familial Hypercholesterolemia, Hypercholesterolemia Familial 3

PCSK9 Gene Hypercholesterolemia autosomal dominant type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation for Detected Variants, Bioinformatic Analysis and Variant Annotation 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 sample receipt at the laboratory. Reports are delivered through the DNA Labs India online portal, via email, and through WhatsApp for patient convenience.. Free home collection in 300+ cities across India.

NGS Genetic TestUnisexAll 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 PCSK9 Gene Hypercholesterolemia Autosomal Dominant Type 3 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PCSK9 gene that cause elevated LDL cholesterol levels through gain-of-function mechanisms. This test enables definitive molecular diagnosis of ADH3, guides targeted therapeutic decisions including PCSK9 inhibitor therapy, facilitates cascade screening of at-risk family members, and supports informed genetic counseling regarding inheritance patterns and cardiovascular risk management.

Test Code
4712
CPT Code
81479
ICD Code
E78.01
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 sample receipt at the laboratory. Reports are delivered through the DNA Labs India online portal, via email, and through WhatsApp for patient convenience.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation for Detected Variants, Bioinformatic Analysis and Variant Annotation
Step 1

Sample Collection

Genetic counseling session is recommended before sample collection. A detailed clinical history of the patient and a pedigree chart of family members affected with hypercholesterolemia or cardiovascular disease should be prepared. No fasting is required for this genetic test.

Method: Venipuncture / Finger prick for FTA Card

Step 2

Laboratory Analysis

A standard venipuncture blood draw (3-5 mL in EDTA tube) is performed by a trained phlebotomist. Alternatively, one drop of blood can be collected on an FTA card. The procedure takes approximately 5-10 minutes.

Step 3

Report Delivery

After sample collection, normal activities can be resumed immediately. The sample is transported to the laboratory under controlled conditions for DNA extraction and NGS analysis. Results are typically available within 3 to 4 weeks.

Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Reports are delivered through the DNA Labs India online portal, via email, and through WhatsApp for patient convenience.

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the implications of testing. Prepare a detailed family pedigree documenting affected relatives with hypercholesterolemia or premature cardiovascular disease. Provide the patient's complete clinical history including current lipid levels, medications, and previous cardiovascular events. No fasting is required. Bring any previous genetic test reports if available.
2
During the Test:A trained phlebotomist will collect 3-5 mL of blood via standard venipuncture into an EDTA tube, or one drop of blood onto an FTA card. The procedure is quick, typically taking 5-10 minutes. Mild discomfort or bruising at the puncture site may occur. No sedation or anesthesia is required.
3
After the Test:Resume normal activities immediately after blood collection. Apply gentle pressure to the puncture site if needed. The sample will be processed at the DNA Labs India laboratory using NGS technology. Results will be available within 3 to 4 weeks and will be shared via the online portal, email, and WhatsApp. A follow-up genetic counseling session is recommended to discuss results.

About This Test

Who Should Get This Test

The purpose of the PCSK9 Gene Hypercholesterolemia Autosomal Dominant Type 3 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PCSK9 gene that cause elevated LDL cholesterol levels through gain-of-function mechanisms. This test enables definitive molecular diagnosis of ADH3, guides targeted therapeutic decisions including PCSK9 inhibitor therapy, facilitates cascade screening of at-risk family members, and supports informed genetic counseling regarding inheritance patterns and cardiovascular risk management.

How to Prepare

  • Collect 3-5 mL of venous blood in an EDTA (lavender top) vacutainer tube
  • Alternatively, collect one drop of blood on an FTA card using a finger prick
  • Label the sample clearly with patient name, date of birth, and unique identification number
  • Transport the blood sample at ambient room temperature (15-30°C) to the laboratory within 48 hours
  • For FTA cards, allow the blood spot to air dry completely before placing in the sample envelope
  • Ensure the requisition form is completed with clinical history and family pedigree information

Doctor's Notes

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

"PCSK9-related familial hypercholesterolemia is a clinically significant yet underdiagnosed cause of premature atherosclerotic cardiovascular disease. Genetic confirmation through NGS testing enables targeted therapy with PCSK9 inhibitors such as evolocumab and alirocumab, which can reduce LDL cholesterol by up to 60%. I strongly recommend genetic testing for any patient with severely elevated LDL cholesterol unresponsive to conventional statin therapy, or with a strong family history of premature coronary events. Early identification allows cascade screening of at-risk family members before clinical disease manifests."

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
ContainerEDTA (Lavender Top) Vacutainer or FTA Card
Collection MethodVenipuncture / Finger prick for FTA Card

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Samples with insufficient volume (less than 2 mL whole blood)
  • Improperly labeled or unlabeled samples
  • Samples received beyond the stability window without prior arrangement
  • Samples collected in incorrect anticoagulant (e.g., heparin tubes)
  • FTA cards with incomplete or overlapping blood spots

Understanding Your Results

The results of the PCSK9 Gene Hypercholesterolemia Autosomal Dominant Type 3 NGS Genetic Test are interpreted based on the detection and classification of genetic variants in the PCSK9 gene. Variants are classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines into five categories: Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, and Benign. Clinical correlation with lipid profile results, family history, and physical examination findings is essential for accurate interpretation.
📊

No Pathogenic Variants Detected

No disease-causing mutations were identified in the PCSK9 gene. This result does not exclude familial hypercholesterolemia caused by mutations in other genes (LDLR, APOB, LDLRAP1). Clinical correlation and additional testing may be warranted.

📊

Pathogenic Variant Detected

A known disease-causing mutation in the PCSK9 gene was identified. This confirms the molecular diagnosis of PCSK9-related autosomal dominant hypercholesterolemia type 3. Cascade screening of first-degree family members is strongly recommended. Targeted therapy with PCSK9 inhibitors should be discussed with the treating cardiologist.

📊

Likely Pathogenic Variant Detected

A variant likely to cause disease was identified. Clinical correlation with lipid levels and family history is recommended. Family segregation studies may help confirm pathogenicity. Treatment decisions should be made in consultation with a genetic specialist and cardiologist.

📊

Variant of Uncertain Significance (VUS)

A variant was identified whose clinical significance cannot be determined with currently available evidence. This result should not be used for clinical decision-making. Additional family studies, functional analyses, or periodic re-evaluation as new data becomes available is recommended.

⚠️ When to Consult a Doctor:

Consult your cardiologist or clinical genetics specialist if a pathogenic or likely pathogenic variant is detected in the PCSK9 gene. Early intervention with PCSK9 inhibitor medications, statins, lifestyle modifications, and regular cardiovascular monitoring can significantly reduce the risk of heart disease and stroke. All first-degree relatives should be offered cascade genetic testing. If a VUS is detected, periodic follow-up with a genetic counselor is recommended for reclassification updates.

Limitations

  • ⚠This test analyzes only the PCSK9 gene and does not cover other genes associated with familial hypercholesterolemia such as LDLR, APOB, or LDLRAP1
  • ⚠Large genomic rearrangements, copy number variations, and deep intronic variants may not be fully detected by standard NGS sequencing
  • ⚠Variants of uncertain significance (VUS) may be identified and may require additional functional studies or family segregation analysis for reclassification
  • ⚠A negative result does not completely exclude a genetic basis for hypercholesterolemia as mutations in other genes may be responsible
  • ⚠This test is not validated for prenatal or preimplantation genetic diagnosis

Risks & Considerations

  • ●Minimal risk associated with blood draw: mild pain, bruising, or swelling at the puncture site
  • ●Rare risk of infection at the venipuncture site
  • ●Psychological impact of receiving genetic diagnosis, including anxiety or distress
  • ●Potential implications for life insurance or health insurance eligibility (consult local regulations)
  • ●Risk of identifying variants of uncertain significance which may cause unnecessary concern

Interfering Factors

  • ●Recent blood transfusion within the past 30 days may affect DNA analysis
  • ●Degraded or insufficient DNA quality may require repeat sample collection
  • ●Hemolyzed blood samples may impact DNA extraction efficiency
  • ●Mosaicism at low levels may not be detectable by standard NGS pipelines

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Frequently Asked Questions

What is PCSK9 Gene Hypercholesterolemia Autosomal Dominant Type 3?
PCSK9 Gene Hypercholesterolemia Autosomal Dominant Type 3 (ADH3) is a genetic condition caused by gain-of-function mutations in the PCSK9 gene. These mutations lead to increased degradation of LDL receptors in the liver, resulting in significantly elevated LDL cholesterol levels in the blood. The condition follows an autosomal dominant inheritance pattern, meaning a single copy of the mutated gene from one parent is sufficient to cause the disorder.
What causes PCSK9-related hypercholesterolemia?
ADH3 is caused by specific mutations (gain-of-function variants) in the PCSK9 gene located on chromosome 1p32.3. The PCSK9 protein normally regulates the number of LDL receptors on liver cells. Mutations cause the PCSK9 protein to become overactive, leading to excessive breakdown of LDL receptors. With fewer receptors available, the liver cannot effectively remove LDL cholesterol from the blood, causing it to accumulate to dangerous levels.
What are the symptoms of PCSK9 Gene Hypercholesterolemia Type 3?
Many individuals with ADH3 may not experience obvious symptoms initially. However, persistently high LDL cholesterol can lead to fatty deposits (xanthomas) on tendons, yellowish deposits around the eyes (xanthelasma), and a grayish-white ring around the cornea (corneal arcus). Over time, atherosclerosis develops, increasing the risk of chest pain (angina), heart attack, stroke, and peripheral artery disease. Symptoms of cardiovascular events include chest pain, shortness of breath, numbness or weakness, difficulty speaking, and dizziness.
How is this condition diagnosed?
PCSK9-related hypercholesterolemia is diagnosed through a combination of clinical evaluation and genetic testing. Clinical assessment includes lipid profile testing showing severely elevated LDL cholesterol, physical examination for xanthomas and corneal arcus, and evaluation of family history. Definitive diagnosis is made through molecular genetic testing, such as the NGS-based PCSK9 gene test offered by DNA Labs India, which identifies the specific pathogenic mutation responsible.
What is NGS technology and why is it used for this test?
Next-Generation Sequencing (NGS) is an advanced high-throughput DNA sequencing technology that can analyze millions of DNA fragments simultaneously. For the PCSK9 gene test, NGS provides comprehensive coverage of the entire gene, detecting single nucleotide variants, small insertions, deletions, and other mutation types with high accuracy. NGS is preferred over traditional Sanger sequencing because it can identify both known and novel mutations, offers higher sensitivity, and is more cost-effective for comprehensive gene analysis.
What sample type is required for this genetic test?
The test can be performed using one of three sample types: 3-5 mL of venous blood collected in an EDTA (lavender top) vacutainer tube, previously extracted DNA, or one drop of blood collected on an FTA (Flinders Technology Associates) card. Blood collection via standard venipuncture is the most common method. The FTA card option is convenient for home collection or remote locations.
How long does it take to receive the test results?
The turnaround time for the PCSK9 Gene Hypercholesterolemia Type 3 NGS Genetic Test is approximately 3 to 4 weeks from the date of sample receipt at the DNA Labs India laboratory. This timeframe includes DNA extraction, NGS library preparation, sequencing, bioinformatic analysis, variant interpretation, and clinical report generation. Results are delivered through the online portal, email, and WhatsApp.
What is the cost of the PCSK9 Gene NGS Genetic Test in India?
The cost of the PCSK9 Gene Hypercholesterolemia Autosomal Dominant Type 3 NGS Genetic Test at DNA Labs India is Rs 20000.0 (INR). This price includes home sample collection across India, comprehensive NGS analysis, variant classification, clinical report generation, and provision of Raw Data, FASTQ, and VCF files for complete transparency. A special discounted price is available for online bookings.
Is genetic counseling required before taking this test?
Yes, genetic counseling is strongly recommended both before and after the PCSK9 gene test. Pre-test counseling helps you understand the implications of testing, the possible outcomes, inheritance patterns, and potential impact on family members. A genetic counselor will also help prepare a detailed pedigree chart documenting family history of hypercholesterolemia and cardiovascular disease. Post-test counseling is essential to interpret results and discuss next steps.
Can PCSK9-related hypercholesterolemia be treated?
Yes, PCSK9-related hypercholesterolemia is treatable. Treatment options include lifestyle modifications (diet, exercise, weight management), statin medications, ezetimibe, bile acid sequestrants, and PCSK9 inhibitor medications (evolocumab and alirocumab). PCSK9 inhibitors are particularly effective for ADH3 as they directly target the overactive PCSK9 protein, reducing LDL cholesterol by up to 60%. Early genetic diagnosis enables timely initiation of targeted therapy and significantly reduces cardiovascular risk.
Who should consider getting this genetic test?
This test is recommended for individuals with severely elevated LDL cholesterol (above 190 mg/dL in adults), those with a family history of premature heart disease or stroke, patients with clinical signs of familial hypercholesterolemia such as tendon xanthomas, individuals being evaluated for PCSK9 inhibitor therapy, and family members of someone already diagnosed with a PCSK9 mutation (cascade screening). Children with significantly elevated cholesterol levels should also be evaluated.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the PCSK9 Gene Hypercholesterolemia Type 3 NGS Genetic Test across India. This service is available in all major cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and hundreds of other locations nationwide. You can book home collection online, and a trained phlebotomist will visit your location to collect the blood sample at your convenience.
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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