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DNA Labs India

ALPL Gene Hypophosphatasia, infantile NGS Genetic Test

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ALPL Gene Hypophosphatasia, infantile NGS Genetic Test

Short Name: ALPL Gene Hypophosphatasia Test

Also known as: ALPL Gene Sequencing, Hypophosphatasia Genetic Test, TNSALP Gene Test

ALPL Gene Hypophosphatasia, infantile NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS Genetic TestInfants🏠 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

To identify mutations in the ALPL gene for definitive diagnosis of infantile hypophosphatasia, assess disease severity, guide treatment decisions, and facilitate family screening and genetic counseling.

Test Code
4711
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
NGS Technology
Step 1

Sample Collection

Provide clinical history and family pedigree chart as advised during genetic counseling.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or using FTA card with minimal discomfort.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising; resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test purpose, process, and implications; provide informed consent.
2
During the Test:Sample collection procedure takes a few minutes; no special preparation needed.
3
After the Test:Results available in 3-4 weeks; follow-up consultation advised for interpretation.

About This Test

Who Should Get This Test

To identify mutations in the ALPL gene for definitive diagnosis of infantile hypophosphatasia, assess disease severity, guide treatment decisions, and facilitate family screening and genetic counseling.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile collection tubes or FTA cards as specified
  • Transport samples at ambient temperature to the lab promptly

Doctor's Notes

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

"This NGS test is essential for accurate diagnosis of infantile hypophosphatasia, enabling early intervention and family counseling."

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 stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ALPL gene. Positive results confirm hypophosphatasia, while negative results may require further testing if clinical suspicion remains high.
📊

Pathogenic variant detected

Confirms diagnosis of hypophosphatasia; genetic counseling recommended for family management.

📊

No pathogenic variant detected

Hypophosphatasia unlikely based on genetic testing; consider other diagnoses or repeat testing if symptoms persist.

📊

Variant of uncertain significance

Further evaluation needed; consult a geneticist for clinical correlation and family studies.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or pediatrician immediately after receiving results to discuss implications, treatment options, and family planning.

Limitations

  • ⚠May not detect all possible mutations or variants of uncertain significance
  • ⚠Does not replace clinical evaluation or other diagnostic tests
  • ⚠Results require interpretation by a genetic specialist

Risks & Considerations

  • ●Minor pain or bruising at the blood draw site
  • ●Very low risk of infection or fainting

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity or quality
  • ●Recent blood transfusions may affect results

Frequently Asked Questions

What is hypophosphatasia?
Hypophosphatasia is a rare genetic disorder that affects bone and tooth mineralization due to deficiency of the enzyme tissue-nonspecific alkaline phosphatase (TNSALP).
What causes hypophosphatasia?
It is caused by mutations in the ALPL gene, which leads to reduced TNSALP activity and accumulation of inorganic pyrophosphate, inhibiting bone formation.
How is hypophosphatasia diagnosed?
Diagnosis involves clinical assessment, blood tests for alkaline phosphatase levels, X-rays, and genetic testing to identify ALPL gene mutations.
What is the ALPL gene NGS test?
It is a next-generation sequencing test that analyzes the ALPL gene to detect mutations causing hypophosphatasia, providing accurate genetic confirmation.
How much does the test cost?
The ALPL Gene Hypophosphatasia infantile NGS Genetic Test costs INR 20000 at DNA Labs India, with home collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the risks of the test?
The test involves a simple blood draw with minimal risks such as slight pain or bruising; serious complications are rare.
Can this test be done during pregnancy?
This test is primarily for infants or suspected cases; prenatal testing may be available through genetic counseling, but consult a specialist.
What if the test result is positive?
A positive result confirms hypophosphatasia; immediate consultation with a geneticist is recommended for management and family screening.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers competitive pricing and may assist with documentation.
How should I prepare for the test?
No fasting is required; provide clinical history and family pedigree during genetic counseling before sample collection.
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.

LIMS Integration

Your Data Privacy

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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