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FGD1 Gene Faciogenital dysplasia NGS Genetic Test

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FGD1 Gene Faciogenital dysplasia NGS Genetic Test

Short Name: FGD1 Gene NGS Test

Also known as: Aarskog-Scott syndrome, Faciogenital dysplasia

FGD1 Gene Faciogenital dysplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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

To detect mutations in the FGD1 gene for diagnosis of Faciogenital Dysplasia, aiding in clinical management and genetic counseling.

Test Code
2737
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 (Next-Generation Sequencing)
Step 1

Sample Collection

No special preparation required. Provide clinical history and undergo genetic counseling.

Method: Blood draw or cheek swab

Step 2

Laboratory Analysis

Blood sample drawn from a vein or cheek swab collected using sterile technique.

Step 3

Report Delivery

Apply pressure to the puncture site for blood draw. Store samples as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to understand test implications.
2
During the Test:Sample collection via blood draw or cheek swab; process involves NGS technology.
3
After the Test:Results available in 3-4 weeks; follow-up with genetic counseling for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the FGD1 gene for diagnosis of Faciogenital Dysplasia, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly
  • Transport at ambient room temperature

Doctor's Notes

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

"Genetic testing is crucial for accurate diagnosis of FGD1 mutations, enabling early intervention and family planning."

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 cheek swab

Sample Stability

Room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or storage

Understanding Your Results

Results indicate the presence or absence of mutations in the FGD1 gene, which may confirm a diagnosis of Faciogenital Dysplasia.
📊

Pathogenic variant detected

Consistent with Faciogenital Dysplasia; genetic counseling recommended.

📊

No pathogenic variant detected

FGD1 mutation unlikely; consider other genetic or clinical evaluations.

📊

Variant of uncertain significance

Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms of Faciogenital Dysplasia are present, or if there is a family history of the disorder, consult a geneticist or pediatrician for evaluation.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a diagnostic tool for other genetic disorders

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results

Interfering Factors

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

Frequently Asked Questions

What is FGD1 Gene Faciogenital Dysplasia?
It is a rare genetic disorder caused by mutations in the FGD1 gene, leading to facial, skeletal, and genital abnormalities, also known as Aarskog-Scott syndrome.
What are the common symptoms of FGD1 mutation?
Symptoms include abnormal facial features, short stature, finger/toe abnormalities, delayed speech, learning difficulties, and genital issues like undescended testes.
How is the FGD1 Gene NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the entire FGD1 gene from a blood sample or cheek swab.
What is the cost of the FGD1 Gene test in India?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and understand the test's implications.
What if the test detects a mutation?
A positive result indicates a likely diagnosis of Faciogenital Dysplasia; consult a geneticist for management and family planning.
Can this test be done on children?
Yes, the test is suitable for all ages, including pediatric patients, as indicated by the test type.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. Government schemes like PMJAY may not cover it.
What is the accuracy of NGS testing for FGD1?
NGS is highly accurate for detecting mutations in the FGD1 gene, but it may not identify all types of genetic variations.
How should I prepare for the test?
No special preparation is needed; provide clinical history and attend genetic counseling before sample collection.
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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✓ 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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