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ATP7A Gene Occipital horn syndrome NGS Genetic Test

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ATP7A Gene Occipital horn syndrome NGS Genetic Test

Short Name: ATP7A OHS NGS

Also known as: OHS, X-linked cutis laxa, ATP7A-related copper transport disorder

ATP7A Gene Occipital horn syndrome 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 are generally available within 3 to 4 weeks after the sample reaches the laboratory. The exact time may vary depending on sequence data complexity and additional confirmatory testing.. Free home collection in 300+ cities across India.

NGS Genetic TestAll 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 this test is to detect pathogenic variants in the ATP7A gene in individuals with clinical features of Occipital Horn Syndrome or a family history of ATP7A-related copper transport disorders. It supports diagnosis, prognostic clarification, reproductive counseling and targeted family screening.

Test Code
4441
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory. The exact time may vary depending on sequence data complexity and additional confirmatory testing.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation, fasting or dietary modification is required. Genetic counseling and clinical history are recommended. Please bring any relevant imaging, previous lab reports and a family pedigree if available.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A small volume of blood is drawn from a peripheral vein using a sterile needle. Alternatively, a single drop of blood may be placed on an FTA card for room-temperature transport and storage.

Step 3

Report Delivery

The sample is securely transported to the DNA Labs India laboratory for DNA extraction and NGS sequencing. Results are expected in 3 to 4 weeks and will be communicated through the selected report delivery method.

Timeline: Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory. The exact time may vary depending on sequence data complexity and additional confirmatory testing.

Patient Instructions

1
Before the Test:No special preparation is needed. Genetic counseling is recommended before the test. Please bring a valid referral, clinical records, family history notes and any prior imaging reports for correlation.
2
During the Test:The test involves blood sample collection or FTA card blood spot application. For blood collection, a tourniquet is applied briefly and a small needle is used to draw the sample. The procedure is completed within a few minutes.
3
After the Test:Once the sample is received by the laboratory, DNA extraction and next-generation sequencing are performed. The report is awaited in 3 to 4 weeks. The testing team may contact you if additional samples are required.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the ATP7A gene in individuals with clinical features of Occipital Horn Syndrome or a family history of ATP7A-related copper transport disorders. It supports diagnosis, prognostic clarification, reproductive counseling and targeted family screening.

How to Prepare

  • No fasting is required
  • Use an EDTA vacutainer for whole blood collection
  • If FTA card is used, apply one drop of blood and allow it to dry completely
  • Label the sample with the patient's full name, date of birth, collection date and time
  • Ensure the clinical history and consent form are attached

Doctor's Notes

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

"ATP7A genetic testing is valuable not only for diagnosing Occipital Horn Syndrome, but also for enabling family members to understand their recurrence risk and plan future pregnancies with accurate information."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 mL whole blood, 1 FTA card spot, or extracted DNA
ContainerEDTA vacutainer, FTA card, or sterile tube containing extracted DNA
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood in EDTA
FTA card dried blood spot
Extracted DNA
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Inappropriate anticoagulant
  • Insufficient DNA quantity or degraded DNA
  • Mislabeled or unlabeled sample
  • FTA card not dried before packaging
  • Sample stored outside recommended temperature limits

Understanding Your Results

The ATP7A gene is located on the X chromosome and encodes a copper-transporting P-type ATPase. Mutations in this gene cause a spectrum of copper metabolism disorders from severe Menkes disease to the milder Occipital Horn Syndrome. This NGS test detects sequence variations in the ATP7A gene and classifies them according to ACMG standards.
📊

Pathogenic variant detected

Confirms a molecular diagnosis of an ATP7A-related disorder. Requires clinical correlation.

📊

Likely pathogenic variant detected

Very likely causative; additional clinical or familial data may strengthen interpretation.

📊

Variant of uncertain significance (VUS)

Insufficient evidence to determine pathogenicity. Further testing or family segregation studies may be recommended.

📊

No pathogenic variant detected

A disease-causing variant in the coding regions analyzed was not identified. Does not exclude OHS if clinical suspicion remains.

⚠️ When to Consult a Doctor:

Consult a neurologist, clinical geneticist, or pediatrician if you or a family member has unexplained skeletal abnormalities, developmental delay, skin laxity, or a known family history of ATP7A-related disorders. Early diagnosis and genetic counseling can guide medical management and family planning.

Limitations

  • ⚠NGS may not detect large deletions, duplications, complex rearrangements, deep intronic variants or trinucleotide repeat expansions.
  • ⚠Variants in poorly covered regions may be missed.
  • ⚠A negative result does not exclude Occipital Horn Syndrome if there is strong clinical suspicion.
  • ⚠Results should be interpreted in the context of clinical and biochemical findings.

Risks & Considerations

  • ●Minor bruising or bleeding at the venipuncture site
  • ●Local pain or discomfort during blood collection
  • ●Psychological impact from unexpected genetic findings
  • ●Reproductive and family planning concerns which are addressed through genetic counseling

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●PCR inhibitors in extracted DNA
  • ●Sample contamination or mix-up
  • ●Mislabeled specimen
  • ●Insufficient FTA card blood spot

Compare With Similar Tests

TestATP7A Gene Occipital horn syndrome NGS Genetic Test
ComparisonATP7A Gene Occipital horn syndrome NGS Genetic Test

Frequently Asked Questions

What is Occipital Horn Syndrome?
Occipital Horn Syndrome (OHS) is a rare X-linked genetic disorder caused by mutations in the ATP7A gene, leading to impaired copper transport. It features connective tissue abnormalities, skeletal changes, and the characteristic occipital horns on skull imaging.
How is ATP7A gene-related OHS inherited?
OHS is inherited in an X-linked recessive pattern. Males are typically affected; females who carry one mutated copy may show mild features depending on X-inactivation.
Why is genetic testing recommended for OHS?
Genetic testing helps confirm clinical suspicion, differentiate OHS from Menkes disease, and provides information for family planning and genetic counseling.
What sample is required for this test?
The test can be performed on blood, extracted DNA, or one drop of blood applied to an FTA card. Blood is usually collected by venipuncture.
Is fasting required before the test?
No, fasting is not required for ATP7A gene analysis.
How long does it take to get reports?
Reports are generally available in 3 to 4 weeks due to the complexity of NGS analysis.
Does this test detect all ATP7A mutations?
The test detects sequence variants in coding regions and splice sites by NGS. Large deletions/duplications and certain regulatory or deep intronic variants may require additional testing.
What does a negative result mean?
A negative result means no disease-causing sequence variant was identified in the ATP7A gene. It does not exclude OHS if clinical suspicion remains strong, as other genetic or non-genetic causes may be present.
Is genetic counseling provided?
Genetic counseling is strongly recommended before and after testing to understand the implications of the results and inheritance risks.
Can this test help in family screening?
Yes, once a pathogenic ATP7A variant is identified in an affected individual, at-risk family members can be offered targeted testing for the same variant.
What is the cost of the test?
The price is INR 20000, which includes home sample collection in many locations across India. However, actual costs may vary; please confirm at booking.
Does DNA Labs India offer home sample collection?
Yes, free home sample collection is available for online bookings for eligible cities across India, including major metros and tier-1/tier-2 cities.
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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