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SSR4 Gene Glycosylation disorder x-linked NGS Genetic Test

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SSR4 Gene Glycosylation disorder x-linked NGS Genetic Test

Short Name: SSR4 Glycosylation Disorder NGS Test

Also known as: SSR4-CDG, X-linked Congenital Disorder of Glycosylation, Glycosylation Disorder X-Linked

SSR4 Gene Glycosylation disorder x-linked 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.

Next-Generation Sequencing (NGS)🏠 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

The purpose of the SSR4 Gene Glycosylation Disorder X-Linked NGS Genetic Test is to accurately detect mutations in the SSR4 gene to confirm a diagnosis of this rare X-linked disorder, differentiate it from other genetic conditions, identify carriers, guide treatment and management strategies, and provide information for genetic counseling and family planning.

Test Code
2062
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

No specific preparation is required. Ensure proper identification and documentation. Genetic counseling is recommended prior to testing.

Method: Venipuncture for blood; finger prick for FTA Card

Step 2

Laboratory Analysis

For blood sample, collect via venipuncture into an EDTA tube. For FTA card, apply one drop of blood and air dry completely. Label samples accurately.

Step 3

Report Delivery

Transport blood samples at room temperature; FTA cards can be stored at room temperature. Avoid contamination and ensure proper handling.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss implications, obtain informed consent, and draw a pedigree chart of affected family members.
2
During the Test:Sample collection as per instructions; minimal discomfort for blood draw.
3
After the Test:Wait for results (3-4 weeks); follow-up with genetic counseling for result interpretation.

About This Test

Who Should Get This Test

The purpose of the SSR4 Gene Glycosylation Disorder X-Linked NGS Genetic Test is to accurately detect mutations in the SSR4 gene to confirm a diagnosis of this rare X-linked disorder, differentiate it from other genetic conditions, identify carriers, guide treatment and management strategies, and provide information for genetic counseling and family planning.

How to Prepare

  • Use sterile EDTA tube for blood collection
  • For FTA card, use a lancet for finger prick and apply blood drop
  • Label all samples with patient details and date
  • Transport within 7 days at ambient temperature

Doctor's Notes

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

"As an Ob-Gyn specialist, I recommend this genetic test for families with a history of X-linked disorders to enable early diagnosis, appropriate management, and informed family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 mL for blood
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture for blood; finger prick for FTA Card

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Unlabeled or mislabeled samples
  • Contaminated samples

Understanding Your Results

Results of the SSR4 Gene NGS Genetic Test should be interpreted by a qualified geneticist or healthcare provider in conjunction with clinical presentation, family history, and other diagnostic findings.
Positive for pathogenic SSR4 mutation: Confirms diagnosis of SSR4 Gene Glycosylation Disorder X-Linked. Indicates X-linked recessive inheritance.
Negative result: No pathogenic variant detected in SSR4 gene. Does not rule out other genetic causes; consider additional testing.
Variant of Uncertain Significance (VUS): A genetic change with unclear clinical impact. Requires follow-up with genetic counseling and possible family studies.
Carrier status: Identification of a heterozygous mutation in females, who may be asymptomatic carriers with risk of passing the disorder to offspring.
⚠️ When to Consult a Doctor:

Consult a geneticist, pediatrician, or neurologist if symptoms suggestive of glycosylation disorder are present, after receiving test results for interpretation, or for genetic counseling and family planning.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
  • ⚠Diagnostic sensitivity is not 100%; negative result does not completely rule out the disorder
  • ⚠Results require correlation with clinical findings and family history
  • ⚠Variant of uncertain significance (VUS) may be identified, requiring further investigation

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection, or fainting
  • ●Emotional impact of genetic results; counseling recommended
  • ●No significant physical risks from the test itself

Interfering Factors

  • ●Poor DNA quality or degradation
  • ●Sample contamination
  • ●Insufficient sample volume
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestSSR4 Gene Glycosylation disorder x-linked NGS Genetic TestPMM2 Gene Mutation TestWhole Exome SequencingSerum Transferrin Isofocusing
ComparisonSSR4 Gene Glycosylation disorder x-linked NGS Genetic TestTargets CDG type Ia; different gene involved.Broader analysis of all genes; higher cost but comprehensive.Screening test for glycosylation abnormalities; not specific to SSR4.

Frequently Asked Questions

What is SSR4 Gene Glycosylation Disorder X-Linked?
It is a rare genetic disorder caused by mutations in the SSR4 gene on the X chromosome, disrupting glycosylation and causing developmental and neurological issues, primarily in males.
Who should consider this genetic test?
Individuals with symptoms like developmental delay, intellectual disability, seizures, or hypotonia, and those with a family history of X-linked glycosylation disorders.
How is the SSR4 Gene NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the SSR4 gene from a blood or DNA sample to detect mutations accurately.
What does a positive test result mean?
A positive result confirms the presence of a pathogenic SSR4 mutation, diagnosing SSR4 Gene Glycosylation Disorder X-Linked and indicating X-linked inheritance.
Is there a cure for SSR4 Gene Glycosylation Disorder X-Linked?
No, there is currently no cure. Treatment focuses on managing symptoms with therapies and medications to improve quality of life.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations in the SSR4 gene, but it may not identify all mutation types. Results should be correlated with clinical findings.
What is the cost of the SSR4 Gene NGS Genetic Test?
The test costs INR 20000.0 at DNA Labs India, including home sample collection 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 across India.
How long does it take to get test results?
Results are typically available within 3 to 4 weeks after sample collection.
Can female carriers be identified with this test?
Yes, the test can identify heterozygous mutations in females, who may be carriers without symptoms but can pass the disorder to children.
What are the risks associated with this genetic test?
The test involves minimal risks from blood draw, such as bruising. Genetic results may have emotional implications, so counseling is recommended.
How should I prepare for the SSR4 Gene NGS Genetic Test?
No special preparation is needed. Genetic counseling is advised to understand the test's implications, and a clinical history and family pedigree should be prepared.
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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