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FGFR1 Gene Hartsfield syndrome NGS Genetic Test

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FGFR1 Gene Hartsfield syndrome NGS Genetic Test

FGFR1 Gene Hartsfield syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Hartsfield syndrome by detecting pathogenic mutations in the FGFR1 gene using next-generation sequencing (NGS) technology.

Test Code
5754
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS
Step 1

Sample Collection

Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection via blood draw or alternative methods as specified.
3
After the Test:Results are available in 3 to 4 weeks; follow-up genetic counseling is advised.

About This Test

Who Should Get This Test

To diagnose Hartsfield syndrome by detecting pathogenic mutations in the FGFR1 gene using next-generation sequencing (NGS) technology.

How to Prepare

  • Collect blood sample in appropriate container or use extracted DNA or FTA card.
  • Ensure sample is labeled correctly and transported at ambient room temperature.

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the FGFR1 gene. Genetic counseling is essential for interpretation.
Normal result: No pathogenic variants detected in the FGFR1 gene.
Abnormal result: Pathogenic variant detected, confirming diagnosis of Hartsfield syndrome.
Variant of uncertain significance: Further testing or family studies may be recommended.
⚠️ When to Consult a Doctor:

Consult a geneticist or healthcare provider if symptoms of Hartsfield syndrome are present, such as craniofacial abnormalities, hearing loss, or developmental delays, or if there is a family history of the disorder.

Frequently Asked Questions

What is Hartsfield syndrome?
Hartsfield syndrome is a rare genetic disorder caused by mutations in the FGFR1 gene, characterized by craniofacial abnormalities, hearing loss, cleft palate, intellectual disability, and developmental delays.
What causes Hartsfield syndrome?
It is caused by mutations in the FGFR1 gene, which plays a role in development. These mutations are typically de novo or inherited in an autosomal dominant pattern.
What are the common symptoms of Hartsfield syndrome?
Common symptoms include microcephaly, exophthalmos, high forehead, hearing loss, cleft palate, intellectual disability, developmental delays, and polydactyly.
How is Hartsfield syndrome diagnosed?
Diagnosis involves clinical evaluation, medical history, and genetic testing such as NGS to detect mutations in the FGFR1 gene.
What is the cost of the FGFR1 Gene Hartsfield Syndrome NGS Genetic Test in India?
The cost is approximately INR 20,000 at DNA Labs India, with home sample collection available.
Is the test covered by insurance?
DNA testing is not always covered by insurance. Patients should check with their insurance provider before undergoing testing.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What sample is required for the test?
The test can be performed using blood, extracted DNA, or one drop of blood on an FTA card.
Who should consider taking this test?
Individuals with symptoms of Hartsfield syndrome, a family history of the disorder, or those recommended by a healthcare provider for genetic evaluation.
What is NGS technology used in this test?
Next-generation sequencing (NGS) is a advanced genetic testing method that analyzes multiple genes simultaneously to identify mutations, such as in the FGFR1 gene.
How accurate is the FGFR1 Gene Hartsfield Syndrome NGS Genetic Test?
The test is highly accurate for detecting pathogenic variants in the FGFR1 gene, but genetic counseling is recommended for result interpretation.
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.

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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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