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ALPL Gene Hypophosphatasia, childhood NGS Genetic Test

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ALPL Gene Hypophosphatasia, childhood NGS Genetic Test

Short Name: ALPL Hypophosphatasia NGS Test

Also known as: Phosphoethanolaminuria, Rathburn Disease

ALPL Gene Hypophosphatasia, childhood 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.

Next-Generation Sequencing (NGS)Pediatric🏠 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 diagnose hypophosphatasia by detecting mutations in the ALPL gene using next-generation sequencing, enabling early intervention and personalized treatment.

Test Code
4708
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

No special preparation required. Provide clinical history and family pedigree if available.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist using sterile equipment.

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:Provide clinical history and family pedigree. No fasting required.
2
During the Test:Blood sample collection via venipuncture or blood drop on FTA card.
3
After the Test:Sample sent for NGS analysis. Results available in 3-4 weeks.

About This Test

Who Should Get This Test

To diagnose hypophosphatasia by detecting mutations in the ALPL gene using next-generation sequencing, enabling early intervention and personalized treatment.

How to Prepare

  • Ensure proper patient identification
  • Use aseptic technique
  • Label samples correctly

Doctor's Notes

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

"Early genetic testing for hypophosphatasia is crucial for timely intervention and personalized treatment plans, especially in pediatric cases."

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 blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood: 48 hours at room temperature
Extracted DNA: Stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ALPL gene associated with hypophosphatasia.
Positive: Pathogenic mutation detected, consistent with hypophosphatasia. Consult a geneticist for management.
Negative: No pathogenic variants detected. Clinical symptoms may require further evaluation.
Variant of uncertain significance: Genetic counseling recommended for further analysis.
⚠️ When to Consult a Doctor:

If symptoms persist, worsen, or if there is a family history of hypophosphatasia, consult a geneticist or pediatrician promptly.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a standalone diagnostic tool; clinical correlation needed

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Compare With Similar Tests

TestALPL Gene Hypophosphatasia, childhood NGS Genetic Test
ComparisonALPL Gene Hypophosphatasia, childhood NGS Genetic Test

Frequently Asked Questions

What is hypophosphatasia?
Hypophosphatasia is a rare genetic disorder that affects bone and teeth mineralization due to mutations in the ALPL gene, leading to low alkaline phosphatase enzyme activity.
What causes hypophosphatasia?
It is caused by mutations in the ALPL gene, which provides instructions for making alkaline phosphatase, an enzyme essential for bone and teeth development.
What are the symptoms of hypophosphatasia in children?
Common symptoms include weak bones, short stature, bow legs, skeletal deformities, chronic pain, and premature tooth loss.
How is hypophosphatasia diagnosed?
Diagnosis involves blood tests for low alkaline phosphatase, X-rays, dental exams, and genetic testing to detect ALPL gene mutations.
What is the ALPL gene?
The ALPL gene encodes the enzyme alkaline phosphatase, which is crucial for bone and teeth mineralization. Mutations in this gene cause hypophosphatasia.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a advanced technology that analyzes large DNA segments quickly and accurately, ideal for detecting genetic mutations like those in the ALPL gene.
How much does the ALPL Gene Hypophosphatasia test cost?
The test costs INR 20000.0 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if the test is positive?
If positive, consult a geneticist or specialist for a personalized treatment plan and genetic counseling to understand implications.
Is the test covered by insurance?
Coverage varies by insurance provider. It is recommended to check with your insurer for specific details.
Can adults take this test?
While the test is specified for childhood hypophosphatasia, adults with symptoms or family history may also benefit; consult a healthcare provider for guidance.
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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