Skip to main content
DNA Labs India

PLEKHM1 Gene Osteopetrosis, autosomal recessive type 6 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PLEKHM1 Gene Osteopetrosis, autosomal recessive type 6 NGS Genetic Test

Short Name: PLEKHM1 Gene Test

Also known as: ARO6 Osteopetrosis Test, PLEKHM1 Mutation Analysis

PLEKHM1 Gene Osteopetrosis, autosomal recessive type 6 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.

NGS Genetic Test🏠 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 PLEKHM1 gene that cause autosomal recessive osteopetrosis type 6, aiding in diagnosis, carrier testing, and genetic counseling.

Test Code
2457
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood collection procedure via venipuncture.

Step 3

Report Delivery

Apply pressure to the puncture site; monitor for any adverse effects.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:DNA extraction and NGS analysis in the laboratory.
3
After the Test:Report generation and genetic counseling for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the PLEKHM1 gene that cause autosomal recessive osteopetrosis type 6, aiding in diagnosis, carrier testing, and genetic counseling.

How to Prepare

  • No fasting required for this test
  • Bring identification and prescription
  • Inform about any medications or health conditions

Doctor's Notes

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

"Genetic testing for osteopetrosis is crucial for accurate diagnosis and management, especially in families with a history of bone disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml for blood samples
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Room temperature48 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PLEKHM1 gene.
📊

Negative

No pathogenic variants detected; clinical correlation recommended.

📊

Positive

Pathogenic variant(s) detected; confirms diagnosis of ARO6 osteopetrosis.

📊

Variant of uncertain significance

Further testing or family studies may be required.

⚠️ When to Consult a Doctor:

If symptoms of osteopetrosis are present or if there is a family history of the disorder.

Limitations

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

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection, or dizziness

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestPLEKHM1 Gene Osteopetrosis, autosomal recessive type 6 NGS Genetic TestTCIRG1 Gene TestCLCN7 Gene TestWhole Exome Sequencing
ComparisonPLEKHM1 Gene Osteopetrosis, autosomal recessive type 6 NGS Genetic Test

Frequently Asked Questions

What is PLEKHM1 Gene Osteopetrosis?
It is a rare genetic disorder caused by mutations in the PLEKHM1 gene, leading to increased bone density and related symptoms.
Who should consider this genetic test?
Individuals with symptoms of osteopetrosis, a family history of the disorder, or those seeking carrier testing.
How is the test performed?
The test uses Next-Generation Sequencing to analyze the PLEKHM1 gene from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home collection is available in many cities across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do the test results mean?
Results indicate whether pathogenic variants in the PLEKHM1 gene are detected, confirming or ruling out ARO6 osteopetrosis.
Is genetic counseling required before testing?
Yes, a genetic counseling session is recommended to understand the implications and draw a family pedigree.
Can this test be used for carrier testing?
Yes, it can identify carriers of PLEKHM1 mutations in families with a history of ARO6.
What are the risks of the test?
The test involves minimal risks from blood collection, such as bruising or infection.
Is the test covered by insurance?
Coverage depends on the insurance provider; check with your insurer for details.
How do I prepare for the test?
No special preparation is needed, but provide clinical history and attend genetic counseling.
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.

Related Tests

WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 3 NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 1 NGS Genetic Test

₹20,000

EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test

₹20,000

COL11A1 Gene Marshall syndrome NGS Genetic Test

₹20,000

ACTN3 (Sports Gene) Genotyping Test

₹7,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.