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PDE6H Gene Achromatopsia Type 6 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PDE6H Gene Achromatopsia Type 6 NGS Genetic Test

Short Name: PDE6H Achromatopsia Type 6 NGS Test

Also known as: PDE6H Gene Mutation Test, Achromatopsia Type 6 Genetic Test, PDE6H NGS Sequencing Test, Rod Monochromacy Type 6 Genetic Test, Cone Phosphodiesterase Gamma Subunit Gene Test

PDE6H Gene Achromatopsia Type 6 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Pipeline Analysis 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 the date of sample receipt at the laboratory. Reports are delivered through the online portal, email, and WhatsApp. Raw Data, FASTQ, and VCF files are also provided upon request for transparency and secondary analysis.. Free home collection in 300+ cities across India.

OphthalmologistAll 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 primary purpose of the PDE6H Gene Achromatopsia Type 6 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PDE6H gene that cause Achromatopsia Type 6. This test is used for molecular confirmation of clinical diagnosis in symptomatic individuals, carrier testing for family members of affected patients, prenatal or preconception carrier screening in families with a known history, and differential diagnosis of cone disorders and color vision deficiencies. The results guide ophthalmologists and clinical geneticists in disease management, visual rehabilitation planning, and genetic counseling for affected families.

Test Code
1465
CPT Code
81479
ICD Code
H53.51
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 the date of sample receipt at the laboratory. Reports are delivered through the online portal, email, and WhatsApp. Raw Data, FASTQ, and VCF files are also provided upon request for transparency and secondary analysis.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Pipeline Analysis
Step 1

Sample Collection

No specific preparation such as fasting is required. The patient should provide a detailed clinical history and family pedigree information. A genetic counseling session is recommended prior to sample collection to understand test implications.

Method: Venipuncture (blood) or buccal swab

Step 2

Laboratory Analysis

A venous blood sample (3-5 mL) is collected in an EDTA (lavender-top) vacutainer tube by a trained phlebotomist. Alternatively, a buccal (cheek) swab or one drop of blood on an FTA card may be used. The collection process is quick and minimally invasive.

Step 3

Report Delivery

The sample is labeled, stored at ambient room temperature, and transported to the DNA Labs India laboratory following standard biosafety protocols. Results are typically available within 3 to 4 weeks and will be shared via the online portal, email, or WhatsApp.

Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered through the online portal, email, and WhatsApp. Raw Data, FASTQ, and VCF files are also provided upon request for transparency and secondary analysis.

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is recommended to discuss the implications of testing, potential outcomes, and inheritance pattern. Provide a detailed family pedigree chart showing affected and unaffected members. No fasting or special preparation is required. Bring any prior ophthalmological or ERG reports for clinical correlation.
2
During the Test:A small blood sample (3-5 mL) is drawn from a vein in the arm using standard venipuncture. The procedure takes less than 5 minutes. Alternatively, a buccal (cheek) swab or blood on an FTA card may be collected. There is minimal discomfort associated with the procedure.
3
After the Test:After sample collection, you may resume normal activities immediately. The sample is processed using next-generation sequencing at DNA Labs India. Results are typically available within 3 to 4 weeks. A genetic counseling session is recommended after receiving results to discuss findings, implications, and next steps.

About This Test

Who Should Get This Test

The primary purpose of the PDE6H Gene Achromatopsia Type 6 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PDE6H gene that cause Achromatopsia Type 6. This test is used for molecular confirmation of clinical diagnosis in symptomatic individuals, carrier testing for family members of affected patients, prenatal or preconception carrier screening in families with a known history, and differential diagnosis of cone disorders and color vision deficiencies. The results guide ophthalmologists and clinical geneticists in disease management, visual rehabilitation planning, and genetic counseling for affected families.

How to Prepare

  • Collect 3-5 mL peripheral venous blood in an EDTA (lavender-top) vacutainer tube
  • Alternatively, collect a buccal swab using a sterile collection kit or one drop of blood on an FTA card
  • Ensure proper patient identification and labeling of the sample with name, date, and unique ID
  • Store the sample at ambient room temperature (15-30°C); do not freeze
  • Transport the sample to the laboratory within 48 hours of collection
  • Include the signed consent form and clinical history form with the sample

Doctor's Notes

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

"Achromatopsia Type 6 is a rare autosomal recessive disorder caused by mutations in the PDE6H gene. Early genetic confirmation through NGS testing allows for accurate diagnosis, appropriate visual rehabilitation strategies such as tinted lenses and low-vision aids, and informed genetic counseling for affected families. Parents who are confirmed carriers can benefit from family planning guidance. I recommend this test for any patient presenting with congenital nystagmus, photophobia, and absent color vision to establish a definitive molecular diagnosis."

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 peripheral blood in EDTA tube
ContainerEDTA (Lavender Top) Vacutainer or FTA Card
Collection MethodVenipuncture (blood) or buccal swab

Sample Stability

EDTA blood at ambient temperature (15-30°C)
EDTA blood at 2-8°C (refrigerated)
Extracted DNA at -20°C
FTA Card (dried blood spot) at room temperature
Sample Rejection Criteria:
  • Clotted blood sample or sample collected in wrong tube type (e.g., heparin instead of EDTA)
  • Insufficient sample volume (less than 2 mL blood)
  • Sample without proper labeling or identification
  • Severely hemolyzed or contaminated sample
  • Sample received without accompanying consent form or clinical history

Understanding Your Results

The PDE6H Gene Achromatopsia Type 6 NGS Genetic Test report provides a detailed analysis of all coding exons and flanking intronic regions of the PDE6H gene. Detected variants are classified according to ACMG/AMP guidelines and presented with clinical correlations. Results should be interpreted by a qualified clinical geneticist or genetic counselor in conjunction with the patient's clinical presentation and family history.
📊

No pathogenic variants detected

Negative for PDE6H-related Achromatopsia Type 6

📊

Two pathogenic or likely pathogenic variants detected (homozygous or compound heterozygous)

Confirmed diagnosis of Achromatopsia Type 6 (ACHM6)

📊

One pathogenic or likely pathogenic variant detected (heterozygous carrier)

Carrier of Achromatopsia Type 6 – genetic counseling recommended

📊

One or more variants of uncertain significance (VUS) detected

Inconclusive – requires further evaluation and follow-up

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or ophthalmologist if the test reveals pathogenic variants consistent with Achromatopsia Type 6, if a VUS is detected and further clarification is needed, if the patient exhibits progressive vision changes, if family members wish to undergo carrier testing, or if the couple is planning a family and wants to understand recurrence risks. Genetic counseling is recommended for all families receiving a positive or carrier result.

Limitations

  • ⚠This test targets only the PDE6H gene and does not screen for mutations in other achromatopsia-associated genes (e.g., CNGA3, CNGB3, GNAT2, ATF6, PDE6C)
  • ⚠Deep intronic variants, large copy number variations (CNVs), and regulatory region mutations may not be fully detected by standard NGS panels
  • ⚠Variants of uncertain significance (VUS) cannot be definitively classified as disease-causing without additional family studies or functional data
  • ⚠A negative result does not completely exclude achromatopsia if caused by mutations in other genes or undetected structural variants
  • ⚠This test is not validated for prenatal diagnosis from chorionic villus sampling (CVS) or amniocentesis without prior validation studies

Risks & Considerations

  • ●Minimal risk associated with blood draw: slight bruising, soreness, or very rarely, infection at the needle site
  • ●Psychological impact of genetic results: anxiety, distress, or family tension upon receiving a positive or carrier result
  • ●Risk of incidental findings or variants of uncertain significance requiring further investigation
  • ●No physical risks associated with buccal swab or FTA card collection methods

Interfering Factors

  • ●Recent blood transfusion (within 120 days) may affect DNA quality and results
  • ●Heparin-treated blood samples can interfere with NGS library preparation
  • ●Degraded or insufficient DNA quantity may require recollection
  • ●Presence of somatic mosaicism may limit detection sensitivity
  • ●Highly homologous pseudogene regions may occasionally affect read mapping accuracy

Compare With Similar Tests

TestPDE6H Gene Achromatopsia Type 6 NGS Genetic TestCNGA3 Gene Achromatopsia Type 2 NGS Genetic TestCNGB3 Gene Achromatopsia Type 3 NGS Genetic TestComprehensive Achromatopsia Gene Panel NGS Test
ComparisonPDE6H Gene Achromatopsia Type 6 NGS Genetic Test

Frequently Asked Questions

What is Achromatopsia Type 6?
Achromatopsia Type 6 (ACHM6) is a rare inherited eye disorder caused by mutations in the PDE6H gene. It affects the cone photoreceptor cells in the retina, resulting in complete color blindness (rod monochromacy), reduced visual acuity, photophobia (extreme sensitivity to light), and nystagmus (involuntary eye movements). Symptoms are typically present from early infancy.
What gene is responsible for Achromatopsia Type 6?
Achromatopsia Type 6 is caused by mutations in the PDE6H gene, located on chromosome 12p13. This gene encodes the gamma subunit of the cone-specific cyclic GMP phosphodiesterase enzyme, which is essential for the phototransduction cascade in cone photoreceptor cells. Disruption of this gene leads to loss of cone function and the clinical features of achromatopsia.
How is Achromatopsia Type 6 inherited?
Achromatopsia Type 6 follows an autosomal recessive inheritance pattern. This means an affected individual must inherit two mutated copies of the PDE6H gene—one from each parent. Both parents are typically carriers (one mutated copy each) and do not show symptoms. When two carriers have a child, there is a 25% chance the child will be affected, a 50% chance the child will be a carrier, and a 25% chance the child will be unaffected and not a carrier.
What are the symptoms of Achromatopsia Type 6?
The main symptoms include complete inability to perceive colors (seeing the world in shades of gray), reduced visual acuity (typically 20/200 or worse), significant photophobia (sensitivity to bright light often causing discomfort or pain), nystagmus (involuntary oscillating eye movements), and sometimes mild strabismus (misalignment of the eyes). These symptoms are usually present from birth or early infancy and remain stable throughout life.
How is the PDE6H Gene Achromatopsia Type 6 NGS Genetic Test performed?
The test uses Next Generation Sequencing (NGS) technology to analyze the complete coding sequence and flanking intronic regions of the PDE6H gene. A blood sample (3-5 mL in EDTA tube), buccal swab, or blood on an FTA card is collected. DNA is extracted, a sequencing library is prepared, and the target gene is sequenced at high depth. Bioinformatics analysis identifies variants, which are then classified according to ACMG guidelines and reported in a clinical-grade report.
What is the cost of the PDE6H Gene Achromatopsia Type 6 NGS Genetic Test?
The cost of the PDE6H Gene Achromatopsia Type 6 NGS Genetic Test at DNA Labs India is INR 20,000 (twenty thousand rupees). This price includes NGS sequencing, bioinformatics analysis, clinical interpretation, genetic counseling support, and free home sample collection across India. Raw Data, FASTQ, and VCF files are also provided along with the clinical report at no additional cost.
What sample is required for this genetic test?
The test can be performed using 3-5 mL of peripheral venous blood collected in an EDTA (lavender-top) vacutainer tube. Alternatively, a buccal (cheek) swab or one drop of blood on an FTA card can be used. No fasting is required. The sample can be collected at home with our free home collection service or at any walk-in center.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks from the date the sample is received at the DNA Labs India laboratory. The report is delivered via the online portal, email, and WhatsApp. If Sanger confirmation sequencing is required for certain variants, there may be a slight additional delay.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the PDE6H Gene Achromatopsia Type 6 NGS Genetic Test. Home collection is available across major cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more. You can book online or call our helpline to schedule a convenient collection time.
Who should get the PDE6H Gene Achromatopsia Type 6 NGS Genetic Test?
This test is recommended for individuals who present with clinical symptoms of achromatopsia including complete color blindness, photophobia, nystagmus, and reduced visual acuity from infancy; patients with a clinical diagnosis of rod monochromacy who need molecular confirmation; parents or siblings of a genetically confirmed ACHM6 patient who wish to know their carrier status; and couples with a family history of achromatopsia who are planning a family and want to understand their recurrence risk.
What is the difference between this single-gene test and a comprehensive achromatopsia panel?
The PDE6H single-gene test specifically analyzes only the PDE6H gene and is appropriate when prior genetic testing has excluded the more common achromatopsia genes (CNGA3, CNGB3) or when there is a known family-specific PDE6H mutation. A comprehensive achromatopsia panel tests multiple genes simultaneously (including CNGA3, CNGB3, GNAT2, PDE6H, PDE6C, ATF6) and is recommended as the first-line genetic evaluation when the specific gene is unknown.
Does DNA Labs India provide raw sequencing data along with the clinical report?
Yes, DNA Labs India is the only laboratory in India that transparently provides Raw Data, FASTQ, and VCF files along with the conclusive clinical test report for the PDE6H Gene Achromatopsia Type 6 NGS Genetic Test. This allows patients and their physicians to verify findings independently, seek second opinions from other genetic experts, or re-analyze data as new gene-disease associations are discovered.
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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