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RNF128 Gene Autism, RNF128 Related NGS Genetic Test

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RNF128 Gene Autism, RNF128 Related NGS Genetic Test

Short Name: RNF128 Gene Autism NGS

Also known as: RNF128 gene sequencing, RNF128 related autism NGS panel, Autism single gene NGS test, RNF128 gene mutation analysis

RNF128 Gene Autism, RNF128 Related 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 after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 this test is to detect clinically significant sequence variants in the RNF128 gene using NGS. It is intended to provide genetic information for individuals with autism spectrum disorder, global developmental delay, intellectual disability, or a family history of RNF128-associated neurodevelopmental disorders. The result helps clinicians and families understand the potential genetic contribution, supports genetic counselling, and guides future diagnostic or reproductive decisions.

Test Code
3930
ICD Code
F84.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please provide clinical history and a pedigree chart of family members affected with autism or neurodevelopmental disorders. A genetic counselling session is recommended before the test.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A small blood sample is collected by a trained phlebotomist. If using FTA card, one drop of blood is placed on the card. If extracted DNA is provided, it must be labelled and packed according to laboratory instructions.

Step 3

Report Delivery

There are no restrictions after sample collection. The sample will be transported to the laboratory at ambient temperature. You can resume normal activities.

Timeline: 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special medical preparation is needed. Complete the genetic counselling session, provide detailed clinical history, and give informed consent for genetic testing.
2
During the Test:A blood sample is drawn, or one drop of blood is placed on an FTA card, or extracted DNA is submitted. The procedure is quick and non-invasive.
3
After the Test:There is no recovery time required. The sample is sent to the laboratory and the report is delivered within 3 to 4 weeks. Genetic counselling is recommended after receiving the report.

About This Test

Who Should Get This Test

The purpose of this test is to detect clinically significant sequence variants in the RNF128 gene using NGS. It is intended to provide genetic information for individuals with autism spectrum disorder, global developmental delay, intellectual disability, or a family history of RNF128-associated neurodevelopmental disorders. The result helps clinicians and families understand the potential genetic contribution, supports genetic counselling, and guides future diagnostic or reproductive decisions.

How to Prepare

  • Blood, extracted DNA, or one drop of blood on FTA card is accepted
  • Use the collection kit provided by DNA Labs India
  • Label the sample container or FTA card clearly with patient identification
  • Keep FTA card dry after blood spotting
  • Transport the sample at ambient room temperature as per laboratory instructions

Doctor's Notes

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

"A genetic test for RNF128 should be ordered only when there is clinical or familial suspicion. The result must be interpreted in the context of a full developmental, neurological and family assessment."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory collection kit instructions
ContainerLaboratory-provided collection kit
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

FTA card blood spot: stable at room temperature
Whole blood: as per laboratory transport kit instructions
Extracted DNA: -20°C recommended for long-term storage
Sample Rejection Criteria:
  • Unlabelled or mislabelled sample
  • Hemolyzed or clotted blood sample
  • Insufficient sample material
  • Leaked or contaminated sample
  • Missing clinical history or consent form

Understanding Your Results

This test is interpreted in the context of clinical findings, family history, and other genetic or diagnostic investigations. A clinical geneticist, paediatrician, neurologist, or developmental specialist should be involved in result interpretation and counselling.
Pathogenic or likely pathogenic variant in RNF128: supports a genetic contribution to the neurodevelopmental presentation; co-segregation and family testing should be considered
Negative result: no pathogenic RNF128 variant detected; does not exclude autism or other genetic causes
Variant of uncertain significance: not used for clinical decision-making; parental/family segregation studies may help reclassify the variant
⚠️ When to Consult a Doctor:

Consult a doctor if a child has delayed speech or language, poor eye contact, reduced social smiling, repetitive behaviours, loss of previously acquired skills, or a family history of autism/neurodevelopmental disorder. Also consult after a genetic test result if a pathogenic variant or variant of uncertain significance is reported.

Limitations

  • ⚠This test only analyses the RNF128 gene and does not cover all autism-related genes
  • ⚠Autism is a genetically heterogeneous condition; a negative result does not exclude ASD
  • ⚠NGS may not detect large deletions/duplications, deep intronic variants, repeat expansions, or methylation changes
  • ⚠A variant of uncertain significance may be reported and require additional family studies
  • ⚠The clinical significance of any identified variant must be interpreted by a geneticist

Risks & Considerations

  • ●Mild pain or bruising at the venipuncture site
  • ●Very small risk of bleeding or hematoma
  • ●FTA card blood spot has minimal physical risk
  • ●Genetic test results may have psychological, familial, or reproductive implications; genetic counselling is advised

Interfering Factors

  • ●Recent blood transfusion may alter DNA analysis results
  • ●Bone marrow transplant can produce mixed DNA profiles
  • ●DNA degradation due to improper storage or transport
  • ●Poor DNA quantity or quality may require repeat testing
  • ●Incomplete family history may affect variant interpretation

Compare With Similar Tests

TestRNF128 Gene Autism, RNF128 Related NGS Genetic Test
ComparisonRNF128 Gene Autism, RNF128 Related NGS Genetic Test

Frequently Asked Questions

What is the RNF128 Gene Autism, RNF128 Related NGS Genetic Test?
It is a targeted next-generation sequencing test that searches for disease-associated variants in the RNF128 gene. RNF128 variants are linked to autism and other neurodevelopmental disorders.
What is the cost of the RNF128 NGS Genetic Test?
At DNA Labs India, the special discounted price is INR 20000 including home sample collection. The report is generally available in 3 to 4 weeks.
What type of sample is required for this test?
Blood, one drop of blood on an FTA card, or extracted DNA can be used. The FTA card method is minimally invasive and simple.
Does this test require fasting?
No fasting is required. However, you should provide clinical history and attend genetic counselling to prepare a family pedigree.
Can this NGS genetic test confirm autism?
No. Autism is diagnosed clinically. This test provides genetic information that may help identify a possible genetic cause or risk factor.
Who should take this test?
People with autism spectrum disorder, developmental delay, intellectual disability, or a family history of RNF128-related neurodevelopmental disorders may benefit. It is also useful for reproductive risk counselling.
Does DNA Labs India provide raw data files?
Yes. DNA Labs India shares raw data, FASTQ, and VCF files along with the conclusive clinical test report.
How long does it take to receive the report?
The report is issued within 3 to 4 weeks after the sample is received by the laboratory.
What is the role of the RNF128 gene in autism?
RNF128 encodes RING finger protein 128, which is involved in immune cell regulation. Some mutations in this gene may increase the risk of autism and related neurodevelopmental disorders.
Will insurance cover this genetic test?
According to DNA Labs India, the test is covered by most insurance plans. Financial assistance is available for those who qualify. Please confirm with your insurance provider.
What does a negative result mean?
A negative result means no clinically significant RNF128 variant was found. It does not exclude autism, because ASD can be caused by other genetic, epigenetic, or environmental factors.
Why is genetic counselling recommended before the test?
Genetic counselling explains the purpose, limitations, and implications of the test, draws a family pedigree, and helps interpret the result in the context of autism.
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

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