Skip to main content
DNA Labs India

SUMF1 Gene Sulfatase deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SUMF1 Gene Sulfatase deficiency NGS Genetic Test

Short Name: SUMF1 Gene Test

Also known as: Multiple Sulfatase Deficiency Test, SUMF1 Mutation Analysis, Sulfatase Deficiency Genetic Test

SUMF1 Gene Sulfatase deficiency 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 TestUnisexAll Ages🏠 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 SUMF1 gene for the diagnosis of sulfatase deficiency, enabling early intervention and management of this rare metabolic disorder.

Test Code
2246
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

Provide clinical history of the patient and draw a pedigree chart of family members affected with sulfatase deficiency during a genetic counseling session.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist; alternatively, extracted DNA or one drop of blood on FTA card can be used.

Step 3

Report Delivery

Sample is transported to the laboratory under controlled conditions for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to obtain informed consent, clinical history, and family pedigree chart.
2
During the Test:Non-invasive blood sample collection or submission of extracted DNA.
3
After the Test:Sample processing, NGS analysis, report generation, and post-test genetic counseling.

About This Test

Who Should Get This Test

To detect mutations in the SUMF1 gene for the diagnosis of sulfatase deficiency, enabling early intervention and management of this rare metabolic disorder.

How to Prepare

  • No fasting required
  • Avoid hemolysis during blood draw
  • Label samples correctly with patient information
  • Store blood samples at ambient room temperature

Doctor's Notes

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

"Genetic testing for sulfatase deficiency is crucial for early diagnosis, management, and family planning. Consult a genetic counselor for personalized guidance based on test results."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood: stable at room temperature for 24 hours
DNA: stable at -20°C for long-term storage
FTA card: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Improperly labeled or missing patient information

Understanding Your Results

Results from the SUMF1 Gene Sulfatase Deficiency NGS Genetic Test indicate the presence or absence of mutations in the SUMF1 gene, which are associated with sulfatase deficiency.
Positive result: Pathogenic mutations detected, confirming diagnosis of sulfatase deficiency; further clinical management and genetic counseling recommended.
Negative result: No pathogenic mutations detected; however, clinical correlation is needed as symptoms may be due to other causes.
Variant of uncertain significance (VUS): Genetic variant detected but clinical significance unclear; additional testing and family studies may be required.
⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist if test results are positive, if symptoms persist or worsen, or for family planning and genetic counseling.

Limitations

  • ⚠May not detect all types of genetic variations
  • ⚠Interpretation requires correlation with clinical symptoms and genetic counseling
  • ⚠Cannot be used as the sole diagnostic tool without clinical assessment

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection or hematoma
  • ●Psychological impact of genetic results; genetic counseling provided

Interfering Factors

  • ●Contaminated samples
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is the SUMF1 Gene Sulfatase Deficiency NGS Genetic Test?
This test uses Next Generation Sequencing to detect mutations in the SUMF1 gene that cause sulfatase deficiency, a rare metabolic disorder affecting sulfate breakdown.
Who should consider taking this test?
Individuals with symptoms like developmental delays, intellectual disability, seizures, eye abnormalities, or a family history of sulfatase deficiency should consider this test.
How is the test sample collected?
A blood sample is collected via venipuncture, or extracted DNA or one drop of blood on an FTA card can be used. Free home collection is available across India.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, NGS analysis, clinical report, and a genetic counseling session.
Is fasting required 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 sample collection, delivered via online portal, email, or WhatsApp.
How accurate is the NGS genetic test?
NGS technology provides high accuracy in detecting genetic mutations, but interpretation should be done by a qualified geneticist or healthcare provider.
What do positive results mean?
Positive results indicate mutations in the SUMF1 gene, confirming a diagnosis of sulfatase deficiency. Genetic counseling is recommended for next steps.
Can this test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes in symptomatic individuals. For prenatal or carrier testing, consult a genetic counselor for appropriate options.
Are there any risks associated with the test?
The test involves a simple blood draw, which has minimal risks such as bruising, pain, or rare infection at the collection site.
How should I prepare for the test?
Provide your clinical history and family pedigree chart during genetic counseling. No special preparation is needed for sample collection.
Where can I get this test done?
The test is available at DNA Labs India, with services in multiple cities across India. You can book online for free home 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.

Related Tests

Alkaptonuria Urine Qualitative Test

₹4,000

Arginase Test

₹3,000

Biotinidase Activity Quantitative Blood Test

₹5,200

Orotic Acid Test

₹5,000

Tryptophan Quantitative Plasma Test

₹18,000

Lysosomal Storage Disorders Enzyme Panel NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.