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SH3PXD2B Gene Frank-ter Haar syndrome NGS Genetic Test

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SH3PXD2B Gene Frank-ter Haar syndrome NGS Genetic Test

SH3PXD2B Gene Frank-ter Haar syndrome 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

To identify pathogenic mutations in the SH3PXD2B gene for the diagnosis of Frank-ter Haar syndrome, aiding in clinical management and genetic counseling.

Test Code
4941
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 of the patient and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Blood draw or Saliva collection

Step 2

Laboratory Analysis

Standard blood draw or saliva collection procedure.

Step 3

Report Delivery

Sample is processed and analyzed using NGS technology.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Sample collection via blood draw or saliva.
3
After the Test:Analysis and report generation.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the SH3PXD2B gene for the diagnosis of Frank-ter Haar syndrome, aiding in clinical management and genetic counseling.

How to Prepare

  • Clinical history of patient
  • Genetic counseling session
  • Pedigree chart of family members

Doctor's Notes

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

"This genetic test is essential for confirming Frank-ter Haar syndrome, enabling early intervention and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or Saliva collection

Understanding Your Results

Results indicate the presence or absence of mutations in the SH3PXD2B gene associated with Frank-ter Haar syndrome.
Positive result: Pathogenic mutation detected, confirming diagnosis.
Negative result: No pathogenic variants found, but clinical correlation is advised.
Variant of uncertain significance: Further testing may be required.
⚠️ When to Consult a Doctor:

If symptoms of Frank-ter Haar syndrome are present, or for family planning if there is a family history of the disorder.

Frequently Asked Questions

What is Frank-ter Haar syndrome?
Frank-ter Haar syndrome is a rare genetic disorder characterized by intellectual disability, abnormal facial features, and skeletal abnormalities.
What causes Frank-ter Haar syndrome?
It is caused by mutations in the SH3PXD2B gene.
What are the common symptoms?
Symptoms include intellectual disability, widely spaced eyes, short fingers, seizures, hearing loss, and vision problems.
How is the syndrome diagnosed?
Diagnosis involves physical exams, medical history, and genetic testing like the SH3PXD2B gene test.
What does the SH3PXD2B gene test involve?
It uses NGS technology to detect mutations in the SH3PXD2B gene from a blood or saliva sample.
How accurate is this genetic test?
NGS technology provides high accuracy for detecting gene mutations.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
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 for online bookings across India.
What should I do if the test is positive?
Consult a genetic counselor or specialist for management and family planning.
Can this test be used for prenatal diagnosis?
It may be used for prenatal testing, but genetic counseling is essential to discuss implications.
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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