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MSX1 Gene Tooth agenesis, selective type 1 NGS Genetic Test

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MSX1 Gene Tooth agenesis, selective type 1 NGS Genetic Test

Short Name: MSX1 Tooth Agenesis NGS

Also known as: MSX1 Gene Sequencing, Selective Tooth Agenesis Genetic Test, MSX1-Related Tooth Agenesis Panel

MSX1 Gene Tooth agenesis, selective type 1 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic variants in the MSX1 gene that are associated with selective tooth agenesis type 1. This helps confirm a clinical diagnosis, guide dental treatment planning, and provide information for genetic counseling regarding recurrence risks in families.

Test Code
5961
CPT Code
81406
ICD Code
K00.0
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

No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and draw a pedigree chart.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.

Step 3

Report Delivery

No specific aftercare is needed. You can resume normal activities immediately.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation is required. However, a genetic counseling session is recommended to discuss the purpose, risks, and benefits of the test.
2
During the Test:A blood sample will be collected. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities. Results will be available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the MSX1 gene that are associated with selective tooth agenesis type 1. This helps confirm a clinical diagnosis, guide dental treatment planning, and provide information for genetic counseling regarding recurrence risks in families.

How to Prepare

  • For blood sample: Use EDTA tube, mix gently to prevent clotting.
  • For FTA card: Apply one drop of blood onto the designated circle, allow to air dry.
  • Label the sample with patient's name, date of birth, and collection date.
  • Transport the sample to the laboratory at ambient temperature.

Doctor's Notes

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

"Genetic testing for MSX1 variants is crucial for accurate diagnosis and family counseling. Early identification helps in planning dental interventions and managing associated dental issues."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood in EDTA tube48 hours
Blood in EDTA tube7 days
FTA card6 months
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged transit time without proper storage
  • FTA card with insufficient blood or contamination

Understanding Your Results

The test report will indicate whether any pathogenic or likely pathogenic variants were identified in the MSX1 gene. If a variant is found, the report will include its clinical significance and recommendations for management.
📊

Positive (Pathogenic variant detected)

Confirms the diagnosis of MSX1-related tooth agenesis. Genetic counseling is recommended for the patient and family members.

Action: Discuss dental management options and family planning.

📊

Negative (No pathogenic variant detected)

No disease-causing variant was found in the MSX1 gene. This does not exclude a genetic cause; other genes may be involved.

Action: Consider testing for other tooth agenesis genes or referral to a geneticist.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unknown. Further testing or family studies may be needed.

Action: Consult with a genetic counselor for interpretation and possible additional testing.

⚠️ When to Consult a Doctor:

If you or your child have missing teeth, delayed tooth eruption, or a family history of tooth agenesis, consult a dentist and a genetic counselor. Genetic testing can provide a definitive diagnosis and guide treatment.

Limitations

  • ⚠This test only analyzes the MSX1 gene; variants in other genes (e.g., PAX9, AXIN2) may also cause tooth agenesis and would not be detected.
  • ⚠Regulatory region variants, large deletions/duplications, or deep intronic variants may not be detected by standard NGS.
  • ⚠Variant interpretation may be limited by current scientific knowledge; variants of uncertain significance may be reported.
  • ⚠This test is not intended for prenatal diagnosis.
  • ⚠A negative result does not rule out a genetic cause if other genes are involved.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of genetic results
  • ●Potential for uncertain results (VUS)
  • ●Insurance or employment discrimination concerns (though rare)

Interfering Factors

  • ●Contamination of sample during collection
  • ●Insufficient DNA quantity or quality
  • ●Presence of maternal cell contamination in prenatal samples (not applicable here)
  • ●Recent blood transfusion (may dilute DNA)
  • ●Technical errors in sequencing or analysis

Compare With Similar Tests

TestMSX1 Gene Tooth agenesis, selective type 1 NGS Genetic TestPAX9 Gene SequencingAXIN2 Gene SequencingTooth Agenesis Panel (Multiple Genes)
ComparisonMSX1 Gene Tooth agenesis, selective type 1 NGS Genetic Test

Frequently Asked Questions

What is MSX1 gene tooth agenesis?
MSX1 gene tooth agenesis is a genetic condition caused by variants in the MSX1 gene, leading to the congenital absence of one or more teeth, typically premolars and third molars.
What are the symptoms of MSX1 gene tooth agenesis?
Symptoms include missing teeth, crowded teeth, abnormal tooth shape, delayed tooth eruption, and small teeth. These can lead to malocclusion, periodontal disease, and dental caries.
How is MSX1 gene tooth agenesis diagnosed?
Diagnosis involves a dental examination and genetic testing. The genetic test analyzes the MSX1 gene for pathogenic variants using NGS technology.
What is the cost of the MSX1 gene tooth agenesis NGS test in India?
The cost is approximately INR 20,000 at DNA Labs India. The price may vary by laboratory and location.
What sample is required for the test?
The sample can be blood (2-3 ml in EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Will I receive raw data files?
Yes, DNA Labs India provides raw data files (FASTQ, VCF) along with the clinical report for transparency.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across India.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the MSX1 gene, confirming the diagnosis of MSX1-related tooth agenesis.
What if the result is negative?
A negative result means no pathogenic variant was found in the MSX1 gene. However, other genes may be responsible, and further testing may be recommended.
Can this test be done for children?
Yes, the test is suitable for all age groups, including children, especially if they show signs of tooth agenesis.
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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✓ 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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