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UBQLN2 Gene Amyotrophic Lateral Sclerosis, X-Linked Juvenile and Adult-Onset ALS NGS Genetic Test

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UBQLN2 Gene Amyotrophic Lateral Sclerosis, X-Linked Juvenile and Adult-Onset ALS NGS Genetic Test

Short Name: UBQLN2 ALS NGS

Also known as: UBQLN2 Gene Mutation Analysis, X-Linked ALS Genetic Test, UBQLN2 NGS Sequencing

UBQLN2 Gene Amyotrophic Lateral Sclerosis, X-Linked Juvenile and Adult-Onset ALS 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 Sample registration, DNA extraction, NGS sequencing, bioinformatics analysis, variant interpretation, and clinical reporting are completed within 3 to 4 weeks.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 or likely pathogenic variants in the UBQLN2 gene in a patient with features of ALS or with a family history of X-linked ALS. The test helps confirm a molecular diagnosis, assess recurrence risk, and guide cascade testing in at-risk relatives.

Test Code
3894
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Sample registration, DNA extraction, NGS sequencing, bioinformatics analysis, variant interpretation, and clinical reporting are completed within 3 to 4 weeks.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A pre-test genetic counseling session is recommended to document clinical history and draw a three-generation pedigree.

Method: Venipuncture / FTA Card Spot / DNA Submission

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist. For FTA card collection, only a drop of blood on the marked circle is required.

Step 3

Report Delivery

No restrictions apply after sample collection. The sample is transported to the laboratory for processing.

Timeline: Sample registration, DNA extraction, NGS sequencing, bioinformatics analysis, variant interpretation, and clinical reporting are completed within 3 to 4 weeks.

Patient Instructions

1
Before the Test:No fasting required. A clinical history document and pedigree chart from the pre-test genetic counseling session are needed.
2
During the Test:A blood sample or FTA card dried blood spot is collected. No special measures are needed during the test itself.
3
After the Test:After sample collection, you can resume normal activities immediately. The laboratory will process the sample and release the report in 3 to 4 weeks.

About This Test

Who Should Get This Test

To identify pathogenic or likely pathogenic variants in the UBQLN2 gene in a patient with features of ALS or with a family history of X-linked ALS. The test helps confirm a molecular diagnosis, assess recurrence risk, and guide cascade testing in at-risk relatives.

How to Prepare

  • No fasting is required for this NGS genetic test.
  • Please carry the prescription or referral note, if available.
  • For home collection, ensure you are available at the scheduled time.
  • For FTA card, do not touch the marked circle after blood spot application.
  • For extracted DNA submission, use a sterile DNAse-free tube.

Doctor's Notes

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

"A positive UBQLN2 result should always be followed by post-test genetic counseling, cascade screening of at-risk family members, and coordinated neurological care. This is especially important for X-linked conditions where female relatives may have variable presentations due to X-inactivation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample VolumeAs required (blood / FTA spot / extracted DNA)
ContainerEDTA vacutainer (blood) / FTA card / sterile DNA tube
Collection MethodVenipuncture / FTA Card Spot / DNA Submission

Sample Stability

Sample Rejection Criteria:
  • Clotted blood or wrong anticoagulant
  • Hemolyzed or degraded sample
  • Insufficient sample quantity
  • Improperly labelled sample
  • FTA card not dried or contaminated

Understanding Your Results

Interpretation of UBQLN2 NGS results should be integrated with clinical findings and family history. Variants are classified according to current ACMG/AMP guidelines.
Negative: No pathogenic or likely pathogenic variants detected in UBQLN2; this does not exclude clinical ALS.
Positive: A pathogenic or likely pathogenic variant is detected, supporting a genetic diagnosis of UBQLN2-related ALS; genetic counseling and cascade testing are advised.
VUS: A variant of uncertain significance is found; current evidence is insufficient to classify it as pathogenic or benign; further family studies may help.
X-linked context: Males are typically more affected; females who are carriers may have mosaic expression due to X-inactivation and can be mildly symptomatic or unaffected.
⚠️ When to Consult a Doctor:

If you or a family member have symptoms suggestive of ALS, such as progressive weakness, muscle wasting, cramps, or a known family history of UBQLN2-related ALS, consult a neurologist or genetic counselor for further evaluation.

Limitations

  • ⚠NGS may not detect all large deletions, duplications, deep intronic mutations, or repeat expansions
  • ⚠A negative UBQLN2 result does not exclude ALS because other genes or non-genetic causes may be involved
  • ⚠Variants of uncertain significance may require additional family segregation studies

Risks & Considerations

  • ●Mild discomfort or bruising at the venipuncture site
  • ●Very low risk of infection
  • ●Psychological impact of receiving genetic test results

Interfering Factors

  • ●Very low DNA concentration
  • ●Poor DNA quality or degradation
  • ●Sample contamination during FTA card collection
  • ●Incomplete sequencing coverage of UBQLN2 coding regions
  • ●Mosaicism for a pathogenic variant

Compare With Similar Tests

TestUBQLN2 Gene Amyotrophic Lateral Sclerosis, X-Linked Juvenile and Adult-Onset ALS NGS Genetic Test
ComparisonUBQLN2 Gene Amyotrophic Lateral Sclerosis, X-Linked Juvenile and Adult-Onset ALS NGS Genetic TestTargeted sequencing of one gene; ideal when X-linked UBQLN2 ALS is suspected or a known family variant is present.Detects hexanucleotide repeat expansion using repeat-primed PCR/TP-PCR; NGS alone may not reliably detect repeat expansions.Targeted SOD1 variant analysis; useful when there is a known SOD1 mutation in the family.Analyzes multiple ALS-associated genes in one run; useful when the clinical presentation does not point to one specific gene.Sequence analyses of TARDBP or FUS genes; considered in familial ALS when phenotype or population prevalence suggests these genes.

Frequently Asked Questions

What is the UBQLN2 gene test?
The UBQLN2 gene test uses next-generation sequencing to look for mutations in the UBQLN2 gene, which is associated with X-linked juvenile and adult-onset amyotrophic lateral sclerosis. It helps establish a genetic cause in patients or families with ALS.
What is the cost of the UBQLN2 ALS NGS genetic test?
DNA Labs India offers the UBQLN2 gene ALS NGS genetic test at INR 20000, with free home sample collection in many cities across India.
Which sample is needed for this test?
The test accepts a blood sample, extracted DNA, or one drop of blood on an FTA card. Free home sample collection is available.
Is fasting required for this genetic test?
No, fasting is not required for the UBQLN2 gene ALS NGS genetic test.
How long will the report take?
Reports are generally available within 3 to 4 weeks after the sample is received at the laboratory.
Can this test confirm ALS?
A positive result can support a molecular diagnosis of UBQLN2-related ALS. ALS diagnosis is clinical, and genetic testing is an adjunctive tool. A negative result does not exclude ALS.
Who should consider this test?
People with symptoms suggestive of familial ALS, unexplained progressive muscle weakness or wasting, or a family history of X-linked inherited ALS should consider this test. It may also be considered in juvenile-onset ALS with suggestive features.
Are there any risks with this test?
The test itself has no direct health risks. If blood is collected by venipuncture, there may be mild discomfort, bruising, or very rare infection at the puncture site.
Does X-linked inheritance mean only males get ALS?
No. In X-linked ALS caused by UBQLN2 mutations, males are usually more severely affected, but females who carry the mutation can sometimes have mild symptoms or be unaffected due to X-inactivation.
What is a variant of uncertain significance (VUS)?
A VUS is a DNA change whose effect on health is currently unclear. Additional family studies and further clinical correlation may help determine its significance.
Is genetic counseling provided with this test?
Yes, a genetic counseling session is required before testing to document clinical history and draw a pedigree chart of family members affected with ALS.
Can this test be done for pre-symptomatic family members?
Yes, at-risk family members can be tested for a known familial UBQLN2 variant after appropriate genetic counseling and informed consent.
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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