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ALPL Gene Hypophosphatasia, adult NGS Genetic Test

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ALPL Gene Hypophosphatasia, adult NGS Genetic Test

Short Name: ALPL Hypophosphatasia NGS Test

Also known as: Hypophosphatasia Genetic Test, ALPL Mutation Analysis, Alkaline Phosphatase Gene Test

ALPL Gene Hypophosphatasia, adult 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 TestAdult🏠 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 identify mutations in the ALPL gene to confirm a diagnosis of hypophosphatasia, enabling early intervention, genetic counseling, and personalized management to prevent complications related to bone and dental health.

Test Code
2118
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 specific preparation required. Ensure a valid prescription and genetic counseling session is completed.

Method: Venipuncture or Home Collection

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or using a FTA card for home collection by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Sample will be processed and analyzed in the laboratory.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Complete a genetic counseling session and provide clinical history as required.
2
During the Test:Sample collection is quick and minimally invasive, typically taking a few minutes.
3
After the Test:No specific post-test care; normal activities can be resumed. Await report delivery in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the ALPL gene to confirm a diagnosis of hypophosphatasia, enabling early intervention, genetic counseling, and personalized management to prevent complications related to bone and dental health.

How to Prepare

  • Use sterile equipment for blood draw
  • Label sample with patient details accurately
  • Store at room temperature if using FTA card
  • Transport to lab within specified stability period

Doctor's Notes

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

"This genetic test is essential for diagnosing hypophosphatasia, enabling personalized management to prevent skeletal and dental complications in affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or Home Collection

Sample Stability

Blood sample: stable for 24 hours at room temperature
Extracted DNA: stable for several days if properly stored
FTA card: stable for extended periods at ambient temperature
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Missing patient information or consent

Understanding Your Results

Results from this test indicate the presence or absence of pathogenic mutations in the ALPL gene. Positive findings confirm a diagnosis of hypophosphatasia, while negative results may require further clinical evaluation.
Positive Result: One or more pathogenic variants detected, confirming hypophosphatasia or carrier status
Negative Result: No pathogenic variants found; clinical correlation recommended if symptoms persist
Variant of Uncertain Significance: Further testing or family studies may be needed
Report includes detailed mutation analysis and genetic counseling recommendations
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms such as recurrent fractures, dental issues, muscle weakness, or if you have a family history of hypophosphatasia. Genetic counseling is advised before and after testing.

Limitations

  • ⚠Cannot detect all possible mutations due to genetic heterogeneity
  • ⚠May not identify variants of uncertain significance
  • ⚠Requires integration with clinical findings for accurate diagnosis

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Recent blood transfusion
  • ●Incorrect sample storage or handling

Compare With Similar Tests

TestALPL Gene Hypophosphatasia, adult NGS Genetic TestALPL Gene SequencingSerum Alkaline Phosphatase Test
ComparisonALPL Gene Hypophosphatasia, adult NGS Genetic Test

Frequently Asked Questions

What is hypophosphatasia?
Hypophosphatasia is a rare genetic disorder caused by mutations in the ALPL gene, leading to impaired bone and tooth mineralization.
Why is the ALPL Gene Hypophosphatasia NGS Genetic Test recommended?
It is recommended for individuals with symptoms like recurrent fractures, dental problems, or low alkaline phosphatase levels to confirm diagnosis and guide management.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze the ALPL gene from a blood or DNA sample, identifying pathogenic mutations.
What is the cost of the test in India?
The test costs INR 20,000, which includes sample collection, analysis, and report generation.
Is home sample collection available?
Yes, free home sample collection is offered across numerous cities in India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate the presence or absence of ALPL gene mutations. A positive result confirms hypophosphatasia, while negative may require further evaluation.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before testing to draw a family pedigree and discuss implications.
What sample is required for the test?
Blood, extracted DNA, or a drop of blood on an FTA card can be used.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising. Psychological support may be needed due to genetic implications.
Can this test be used for prenatal diagnosis?
This test is designed for adults; prenatal testing may require different methods and should be discussed with a genetic counselor.
How accurate is the NGS genetic test?
NGS provides high accuracy in detecting mutations, but results should be integrated with clinical findings for definitive diagnosis.
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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