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ANKH Gene Craniometaphyseal dysplasia NGS Genetic Test

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ANKH Gene Craniometaphyseal dysplasia NGS Genetic Test

Short Name: ANKH Gene CMD NGS Test

Also known as: CMD, Craniometaphyseal dysplasia

ANKH Gene Craniometaphyseal dysplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the ANKH gene for definitive diagnosis of craniometaphyseal dysplasia, aiding in clinical management and genetic counseling.

Test Code
2710
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS, Next-Generation Sequencing
Step 1

Sample Collection

No special preparation required. Provide detailed clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. The sample will be transported to the laboratory for analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:No special preparation required. Genetic counseling is recommended prior to testing.
2
During the Test:The test involves sequencing the entire coding region of the ANKH gene using next-generation sequencing technology.
3
After the Test:Results are analyzed by geneticists and reported with clinical interpretation.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the ANKH gene for definitive diagnosis of craniometaphyseal dysplasia, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately with patient details

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for ANKH gene mutations is crucial for managing craniometaphyseal dysplasia and guiding treatment options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples are stable at room temperature for up to 24 hours
Extracted DNA can be stored at -20°C for long-term stability
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 mutations in the ANKH gene, guiding diagnosis and management.
📊

Pathogenic variant detected

Confirms diagnosis of craniometaphyseal dysplasia. Genetic counseling and clinical management recommended.

📊

No pathogenic variant detected

CMD is less likely, but clinical correlation and further evaluation may be needed.

📊

Variant of uncertain significance

Additional testing, family studies, or clinical follow-up advised for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician if symptoms of CMD are present, there is a family history, or for interpretation of genetic test results.

Limitations

  • ⚠May not detect all mutation types, such as large deletions
  • ⚠Variants of uncertain significance may be identified
  • ⚠Requires genetic counseling for accurate interpretation

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection at the puncture site

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is the ANKH Gene Craniometaphyseal Dysplasia NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the ANKH gene, which causes craniometaphyseal dysplasia, a rare bone disorder.
What is the cost of this test in India?
The cost is INR 20000, which includes sample collection, testing, and report delivery.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the ANKH gene for mutations.
What samples are required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of craniometaphyseal dysplasia?
Symptoms include abnormal skull growth, facial disfigurement, hearing loss, seizures, and dental problems.
How is craniometaphyseal dysplasia diagnosed?
Diagnosis is based on clinical symptoms, radiographic findings, and genetic testing to confirm ANKH gene mutations.
What is the role of the ANKH gene?
The ANKH gene regulates inorganic pyrophosphate transport in bone tissue, and mutations lead to abnormal bone development.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What cities do you serve for home collection?
We serve numerous cities including Mumbai, Delhi, Bangalore, Hyderabad, and many more across India.
How can I book this test?
You can book online through our website or contact us via phone or WhatsApp for assistance.
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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