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AMER1 Gene Osteopathia striata with cranial sclerosis NGS Genetic Test

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AMER1 Gene Osteopathia striata with cranial sclerosis NGS Genetic Test

Short Name: AMER1 Gene OS-CS NGS Test

Also known as: Osteopathia Striata with Cranial Sclerosis, OS-CS

AMER1 Gene Osteopathia striata with cranial sclerosis 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 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 detect mutations in the AMER1 gene associated with Osteopathia Striata with Cranial Sclerosis, enabling accurate diagnosis, genetic counseling, and informed medical management.

Test Code
2452
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 undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to draw a pedigree chart.
2
During the Test:Blood sample collected via venipuncture or finger prick.
3
After the Test:Apply pressure to the puncture site to prevent bruising.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the AMER1 gene associated with Osteopathia Striata with Cranial Sclerosis, enabling accurate diagnosis, genetic counseling, and informed medical management.

How to Prepare

  • Fast for 8-12 hours if required
  • Bring identification and prescription
  • Inform about any medications

Doctor's Notes

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

"This genetic test is vital for confirming diagnosis in suspected cases of Osteopathia Striata with Cranial Sclerosis, aiding in management and genetic counseling."

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 blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or contaminated sample

Understanding Your Results

Results indicate the presence or absence of mutations in the AMER1 gene.
📊

No mutation detected

No pathogenic variant found; clinical correlation recommended.

📊

Pathogenic mutation detected

Confirms diagnosis of OS-CS; genetic counseling advised.

⚠️ When to Consult a Doctor:

If symptoms of bone abnormalities or family history are present, consult a geneticist or orthopedic specialist.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible bruising or infection at puncture site

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Compare With Similar Tests

TestAMER1 Gene Osteopathia striata with cranial sclerosis NGS Genetic TestSkeletal Dysplasia PanelWhole Exome Sequencing
ComparisonAMER1 Gene Osteopathia striata with cranial sclerosis NGS Genetic TestBroader panel for multiple bone disordersComprehensive but more expensive

Frequently Asked Questions

What is AMER1 Gene OS-CS NGS Genetic Test?
It is a next-generation sequencing test to detect mutations in the AMER1 gene causing Osteopathia Striata with Cranial Sclerosis.
Who should take this test?
Individuals with symptoms of bone abnormalities, family history of OS-CS, or suspected genetic bone disorders.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to identify AMER1 gene mutations.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do the results mean?
Results indicate the presence or absence of pathogenic mutations in the AMER1 gene, confirming or ruling out OS-CS.
Is the test covered by insurance?
Coverage depends on your insurance plan; check with your provider.
What are the symptoms of OS-CS?
Symptoms include abnormal bone growth, cranial sclerosis, dental issues, limb abnormalities, and sometimes intellectual disability.
How is OS-CS inherited?
It is inherited in an X-linked dominant pattern, more common in females.
Can this test be used for prenatal diagnosis?
Consult a geneticist for prenatal testing options, as this test is typically postnatal.
What should I do after receiving the results?
Discuss results with a healthcare provider for appropriate management and 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.

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For Hospitals & Clinics

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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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