Skip to main content
DNA Labs India

UBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

UBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type NGS Genetic Test

Short Name: UBE2A Gene NGS Test

Also known as: UBE2A Gene Mutation Test, Nascimento-Type Syndrome Genetic Test, X-linked Syndromic Intellectual Disability NGS Test, UBE2A Sequencing Test, MRXSN Genetic Test

UBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type 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 (Next-Generation Sequencing)All 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

The purpose of the UBE2A Gene NGS Genetic Test is to detect pathogenic mutations in the UBE2A gene associated with X-linked syndromic intellectual disability (Nascimento-type). This test is used for diagnostic confirmation in individuals presenting with clinical features of the syndrome, carrier testing in females with a family history of UBE2A mutations, genetic counseling for affected families, and informed reproductive and prenatal planning.

Test Code
1698
ICD Code
Q87.8, F78
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

A genetic counseling session is recommended prior to testing to discuss the clinical indication, test implications, expected outcomes, and to document a detailed pedigree chart of family members affected with intellectual disability or related conditions. Provide complete clinical history of the patient, including developmental milestones, seizure history, and any prior genetic test results.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist collects a small blood sample (3–5 mL) via venipuncture from a vein in the arm. The sample is placed in an EDTA (lavender top) tube and labeled with the patient's details. No fasting is required.

Step 3

Report Delivery

Apply gentle pressure to the puncture site with a sterile cotton ball for 2–3 minutes. A small bandage may be applied. The patient may resume normal activities immediately. The sample is transported to the laboratory under controlled ambient temperature conditions for processing and analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Prior to sample collection, a genetic counseling session is strongly recommended. The counselor will document a detailed family pedigree, review the patient's clinical history including developmental milestones and seizure history, and discuss the implications, benefits, and limitations of genetic testing. Informed consent should be obtained.
2
During the Test:A trained phlebotomist collects 3–5 mL of blood via venipuncture into an EDTA tube. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be used. The sample is labeled, packaged, and transported to the DNA Labs India laboratory under controlled conditions.
3
After the Test:After blood collection, apply gentle pressure to the puncture site. The patient may resume normal activities immediately. The laboratory performs NGS sequencing, bioinformatics analysis, and variant classification. A detailed clinical report is generated and reviewed by a qualified geneticist. Raw data files (FASTQ and VCF) are also provided along with the clinical report.

About This Test

Who Should Get This Test

The purpose of the UBE2A Gene NGS Genetic Test is to detect pathogenic mutations in the UBE2A gene associated with X-linked syndromic intellectual disability (Nascimento-type). This test is used for diagnostic confirmation in individuals presenting with clinical features of the syndrome, carrier testing in females with a family history of UBE2A mutations, genetic counseling for affected families, and informed reproductive and prenatal planning.

How to Prepare

  • No fasting is required before sample collection
  • Carry a valid government-issued photo ID and the doctor's prescription
  • Inform the phlebotomist about any recent blood transfusions or bone marrow transplants
  • Provide complete clinical history and family pedigree information at the time of collection
  • If using an FTA card, ensure the blood drop is properly applied and dried before packaging
  • For extracted DNA samples, ensure proper storage and transport at recommended temperatures

Doctor's Notes

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

"Early identification of UBE2A gene mutations through NGS testing is essential for accurate diagnosis, enabling timely therapeutic interventions and comprehensive genetic counseling for affected families. As an X-linked condition, carrier detection in females is particularly important for informed reproductive planning and prenatal counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample Volume3–5 mL Whole Blood
ContainerEDTA (Lavender Top) Tube
Collection MethodVenipuncture

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume (less than 2 mL)
  • Samples without proper labeling or identification
  • Contaminated or leaking sample containers
  • Samples received without the requisite clinical history or prescription
  • Samples collected in incorrect anticoagulant tubes (non-EDTA)

Understanding Your Results

The results of the UBE2A Gene NGS Genetic Test provide detailed information about the presence or absence of genetic variants in the UBE2A gene. Detected variants are classified according to ACMG guidelines and should be interpreted by a qualified geneticist or genetic counselor in the context of the patient's clinical presentation and family history. A positive result confirming a pathogenic variant in UBE2A supports a diagnosis of Nascimento-type syndrome and has implications for management, family counseling, and reproductive planning.
📊

Pathogenic Variant Detected

A known disease-causing mutation in the UBE2A gene has been identified. This is consistent with a diagnosis of Nascimento-type X-linked syndromic intellectual disability. Genetic counseling and targeted clinical management are recommended.

📊

Likely Pathogenic Variant Detected

A variant with strong evidence of disease association has been found. Clinical correlation and family studies are recommended to confirm the diagnosis.

📊

Variant of Uncertain Significance (VUS)

A genetic change of unknown clinical significance was detected. Further testing, family studies, and clinical correlation are needed to determine its role in the patient's condition. This result alone is not diagnostic.

📊

Likely Benign Variant Detected

A variant that is unlikely to be disease-causing has been identified. This result generally does not support a diagnosis of Nascimento-type syndrome.

📊

No Pathogenic Variant Detected

No disease-causing mutations were identified in the UBE2A gene. This result does not entirely exclude a genetic basis for the patient's condition, as mutations in other genes may be responsible. Additional genetic testing may be considered.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, neurologist, or genetic counselor if the test result is positive for a pathogenic or likely pathogenic variant, if a VUS is identified, or if the clinical features are consistent with Nascimento-type syndrome but no pathogenic variant is found. Carrier females planning a pregnancy should also seek genetic counseling. Families with a confirmed UBE2A mutation should discuss recurrence risks and reproductive options with a genetic counselor.

Limitations

  • ⚠This test does not detect large genomic deletions or duplications in the UBE2A gene unless specifically analyzed with copy number variation (CNV) detection
  • ⚠Variants of uncertain significance (VUS) may be identified and may require further evaluation
  • ⚠The test does not screen mutations in other genes associated with intellectual disability
  • ⚠Results must be interpreted in conjunction with clinical findings and family history
  • ⚠Low-level mosaicism may not be reliably detected by NGS
  • ⚠Deep intronic variants and regulatory region mutations outside the coding sequence may not be fully covered

Risks & Considerations

  • ●Minor bruising or swelling at the blood collection puncture site
  • ●Slight pain or discomfort during needle insertion
  • ●Rare risk of infection at the puncture site
  • ●Psychological distress related to receiving genetic test results
  • ●Potential identification of variants of uncertain significance causing anxiety

Interfering Factors

  • ●Degraded or low-quality DNA may affect sequencing accuracy
  • ●Hemolyzed or clotted blood samples may yield suboptimal results
  • ●Recent blood transfusion (within 4 weeks) may interfere with results
  • ●Bone marrow transplant recipients may have donor DNA in the sample
  • ●Contamination of the sample during collection or transport

Compare With Similar Tests

TestUBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type NGS Genetic TestSanger SequencingWhole Exome Sequencing (WES)Whole Genome Sequencing (WGS)Chromosomal Microarray Analysis (CMA)Targeted Gene Panel (NGS)
ComparisonUBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type NGS Genetic Test

Frequently Asked Questions

What is the UBE2A Gene Mental Retardation NGS Genetic Test?
The UBE2A Gene Mental Retardation, X-linked Syndromic, Nascimento-type NGS Genetic Test is a next-generation sequencing-based diagnostic test that analyzes the UBE2A gene on the X chromosome to detect mutations responsible for Nascimento-type syndrome, a rare X-linked form of syndromic intellectual disability. The test uses advanced sequencing technology to identify point mutations, small insertions, deletions, and splice-site variants in the gene.
What is Nascimento-type syndrome?
Nascimento-type syndrome is a rare X-linked syndromic form of intellectual disability caused by mutations in the UBE2A gene. It was first described in 2006 by Brazilian researchers. The syndrome is characterized by severe intellectual disability, delayed speech and motor development, distinctive facial dysmorphism, seizures, hypotonia, joint laxity, and other physical abnormalities. The condition predominantly affects males.
Who should undergo the UBE2A Gene NGS Genetic Test?
This test is recommended for individuals presenting with unexplained severe intellectual disability, delayed speech and motor development with facial dysmorphism, seizures with hypotonia and joint laxity, a family history of X-linked intellectual disability, or clinical features suggestive of Nascimento-type syndrome. Carrier testing is also available for females with a known family history of UBE2A mutations.
What sample is required for the UBE2A Gene NGS Genetic Test?
The test requires a blood sample (3–5 mL) collected in an EDTA (lavender top) tube via venipuncture. Alternatively, extracted DNA or one drop of blood on an FTA card may be used. No fasting is required prior to sample collection.
How is the UBE2A Gene NGS Genetic Test performed?
DNA is extracted from the provided blood or tissue sample. The UBE2A gene region is enriched using targeted capture technology and sequenced using next-generation sequencing (NGS). The sequencing data is analyzed through advanced bioinformatics pipelines, and detected variants are classified according to ACMG (American College of Medical Genetics and Genomics) guidelines. A detailed clinical report is then generated.
How long does it take to get the results of the UBE2A Gene NGS Genetic Test?
The turnaround time for the UBE2A Gene NGS Genetic Test at DNA Labs India is approximately 3 to 4 weeks from the date of sample receipt at the laboratory. The report is delivered via online portal, email, or WhatsApp.
What is the cost of the UBE2A Gene NGS Genetic Test at DNA Labs India?
The cost of the UBE2A Gene Mental Retardation, X-linked Syndromic, Nascimento-type NGS Genetic Test at DNA Labs India is INR ?20,000. This price includes NGS sequencing, bioinformatics analysis, a genetic counseling session, the clinical test report, raw data files (FASTQ and VCF), and free home sample collection across India.
Is the UBE2A Gene NGS Genetic Test painful?
The test involves a routine blood draw via venipuncture, which may cause minor discomfort or a slight prick sensation when the needle is inserted. Most patients experience only minimal and temporary discomfort. There are no significant risks associated with the blood collection procedure.
Can carrier females be identified through this test?
Yes, the UBE2A Gene NGS Genetic Test can identify carrier females who have one copy of a pathogenic UBE2A mutation. Since UBE2A-related Nascimento-type syndrome follows an X-linked recessive inheritance pattern, carrier females typically do not show severe symptoms but can pass the mutation to their children. Carrier testing is particularly important for informed reproductive planning.
What happens if the test detects a pathogenic variant?
If a pathogenic or likely pathogenic variant is identified in the UBE2A gene, a detailed clinical report is provided to the referring physician. The patient and family are referred for genetic counseling to discuss the diagnosis, management options, recurrence risks, and reproductive planning. Supportive therapies, early intervention programs, and regular neurological follow-up are recommended for affected individuals.
Does DNA Labs India provide raw genetic data with the test report?
Yes, DNA Labs India is the only laboratory in India that provides raw data files (FASTQ and VCF formats) along with the conclusive clinical test report for the UBE2A Gene NGS Genetic Test. This transparency allows healthcare providers and patients to review the raw sequencing data independently and seek second opinions if needed.
Is genetic counseling available for families affected by Nascimento-type syndrome?
Yes, DNA Labs India includes a genetic counseling session as part of the UBE2A Gene NGS Genetic Test. A qualified genetic counselor will draw a pedigree chart of family members, discuss the inheritance pattern, explain the test results, and provide guidance on family planning, prenatal testing options, and management strategies for affected individuals.
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

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.