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APCDD1 Gene Hypotrichosis type 1 NGS Genetic Test

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APCDD1 Gene Hypotrichosis type 1 NGS Genetic Test

Short Name: APCDD1 Hypotrichosis NGS Test

Also known as: Hypotrichosis Type 1, APCDD1-related hypotrichosis

APCDD1 Gene Hypotrichosis type 1 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 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 APCDD1 Gene Hypotrichosis Type 1 NGS Genetic Test is to detect pathogenic mutations in the APCDD1 gene for the diagnosis of Hypotrichosis Type 1, enabling accurate clinical management, genetic counseling, and family risk assessment.

Test Code
4978
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Ensure proper identification and consent for genetic testing.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using sterile techniques, or a drop of blood will be applied to an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to understand the test implications and obtain informed consent.
2
During the Test:The test involves Next-Generation Sequencing of the APCDD1 gene from the provided sample.
3
After the Test:Results are reviewed by geneticists, and a report is generated with recommendations for follow-up.

About This Test

Who Should Get This Test

The purpose of the APCDD1 Gene Hypotrichosis Type 1 NGS Genetic Test is to detect pathogenic mutations in the APCDD1 gene for the diagnosis of Hypotrichosis Type 1, enabling accurate clinical management, genetic counseling, and family risk assessment.

How to Prepare

  • Verify patient identity and test order
  • Use appropriate collection tubes or FTA cards
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature

Doctor's Notes

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

"Genetic testing for APCDD1 mutations is crucial for accurate diagnosis, family planning, and understanding the inheritance pattern of Hypotrichosis Type 1."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood samples are stable for 48 hours at room temperature
Extracted DNA can be stored at -20°C for long-term stability
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from the APCDD1 Gene Hypotrichosis Type 1 NGS Genetic Test indicate the presence or absence of mutations in the APCDD1 gene. Interpretation should be done in conjunction with clinical findings and family history.
Positive Result: Pathogenic variant detected, confirming diagnosis of Hypotrichosis Type 1.
Negative Result: No pathogenic variant detected, but clinical correlation is advised.
Variant of Uncertain Significance: Further testing or family studies may be needed.
Likely Pathogenic/Benign: High probability of disease association or benign nature.
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of hypotrichosis are present, for family planning if there is a family history, or to discuss test results and management options.

Limitations

  • ⚠May not detect all possible mutations in the APCDD1 gene
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other genetic or non-genetic causes of hypotrichosis

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, addressed through counseling

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Degraded DNA quality
  • ●Insufficient sample volume

Frequently Asked Questions

What is APCDD1 Gene Hypotrichosis Type 1?
It is a rare genetic disorder caused by mutations in the APCDD1 gene, leading to reduced or absent hair growth, often with additional features like thickened skin and nail abnormalities.
What are the symptoms of Hypotrichosis Type 1?
Symptoms include sparse, thin, and brittle hair from childhood, possible hair absence on the scalp, thickened skin on palms and soles, abnormal nails, and irregular teeth.
How is Hypotrichosis Type 1 diagnosed?
Diagnosis is based on clinical features and confirmed through genetic testing, such as the APCDD1 Gene NGS Genetic Test, which identifies mutations in the APCDD1 gene.
What does the NGS Genetic Test involve?
The test uses Next-Generation Sequencing to analyze the entire APCDD1 gene from a blood or DNA sample, detecting mutations associated with the condition.
What is the cost of the APCDD1 Gene Hypotrichosis Type 1 NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted for the test?
Accepted samples include blood, extracted DNA, or one drop of blood on an FTA card.
Is genetic counseling recommended before taking the test?
Yes, genetic counseling is advised to understand the test implications, inheritance patterns, and to draw a family pedigree chart.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis. For prenatal testing, consult a genetic specialist for appropriate options.
What should I do if I receive a positive result?
A positive result confirms the diagnosis. Consult a healthcare provider for management strategies, genetic counseling, and family planning advice.
Is the test covered by insurance schemes like PMJAY or CGHS?
Coverage varies; it is recommended to check with your insurance provider or scheme administrator for specific details.
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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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.

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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.

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