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DNA Labs India

DMP1 Gene Hypophosphatemic rickets, autosomal recessive type 1 NGS Genetic Test

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DMP1 Gene Hypophosphatemic rickets, autosomal recessive type 1 NGS Genetic Test

Short Name: DMP1 Gene Test for Hypophosphatemic Rickets

Also known as: Autosomal Recessive Hypophosphatemic Rickets Type 1, DMP1 Gene Mutation Test

DMP1 Gene Hypophosphatemic rickets, autosomal recessive type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS) Genetic TestAll Ages🏠 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 identify mutations in the DMP1 gene for diagnosis of autosomal recessive hypophosphatemic rickets type 1, guiding treatment and genetic counseling.

Test Code
4975
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history and family pedigree during genetic counseling session.

Method: Venipuncture or finger-prick for FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick for FTA card.

Step 3

Report Delivery

Sample is labeled and transported to the laboratory for analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss test implications, family history, and consent.
2
During the Test:Non-invasive blood draw procedure with minimal discomfort.
3
After the Test:Results are reviewed with a genetic counselor to explain findings and next steps.

About This Test

Who Should Get This Test

To identify mutations in the DMP1 gene for diagnosis of autosomal recessive hypophosphatemic rickets type 1, guiding treatment and genetic counseling.

How to Prepare

  • Ensure proper labeling of samples
  • Avoid hemolysis during blood draw
  • Store samples at appropriate temperature as specified

Doctor's Notes

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

"Early genetic diagnosis of DMP1 mutations can guide targeted treatment and family counseling for hypophosphatemic rickets, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample Volume5 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick for FTA card

Sample Stability

Blood: 2-8°C for up to 48 hours
Extracted DNA: Stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the DMP1 gene associated with hypophosphatemic rickets.
Positive: Pathogenic variant detected, confirming diagnosis of autosomal recessive hypophosphatemic rickets type 1.
Negative: No pathogenic variant detected; clinical correlation and further testing may be needed.
Variant of uncertain significance (VUS): Requires additional family studies or functional analysis for clarification.
⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms persist, if there is a family history of hypophosphatemic rickets, or for guidance on treatment and family planning.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may need correlation with clinical findings

Risks & Considerations

  • ●Minor bruising at the puncture site
  • ●Rare risk of infection or hematoma

Interfering Factors

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

Frequently Asked Questions

What is DMP1 Gene Hypophosphatemic Rickets?
It is a rare genetic disorder caused by mutations in the DMP1 gene, leading to low phosphate levels, weak bones, and dental problems.
Who should consider taking this test?
Individuals with symptoms like bowed legs, short stature, bone pain, or a family history of hypophosphatemic rickets.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the DMP1 gene from a blood or DNA sample.
What is the cost of the DMP1 Gene Test?
The test costs INR 20,000, which includes genetic counseling and support services.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
What are the common symptoms of this condition?
Symptoms include bowed legs, knock knees, short stature, delayed growth, bone pain, and dental issues.
How is hypophosphatemic rickets treated?
Treatment may involve phosphate supplements, active vitamin D analogs, and regular monitoring, guided by genetic diagnosis.
Is genetic counseling included with the test?
Yes, genetic counseling is provided to help interpret results and discuss implications for patients and families.
What if the test is negative but symptoms persist?
A negative result does not rule out other causes; clinical correlation and additional testing may be recommended.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible through genetic counseling, but it requires specific sample types and consultation.
Is the test covered by insurance?
Coverage varies by insurance plan; it is advisable to check with your provider for details.
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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