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RRM1 Gene Autism, RRM1 Related NGS Genetic Test

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RRM1 Gene Autism, RRM1 Related NGS Genetic Test

Short Name: RRM1 NGS Test

Also known as: RRM1 Gene Sequencing, RRM1 NGS Genetic Test, RRM1 Autism DNA Test

RRM1 Gene Autism, RRM1 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 Reports are typically delivered in 3 to 4 weeks after the sample is received by the laboratory.. 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

The purpose of this RRM1-related NGS genetic test is to provide a molecular analysis of the RRM1 gene for individuals with autism spectrum disorder or related neurodevelopmental concerns. It is intended to aid in identifying a possible genetic underpinning for the condition, support informed genetic counseling, and allow the family to make more informed reproductive decisions. This test is not a standalone diagnostic test for autism.

Test Code
3935
ICD Code
F84.9
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered in 3 to 4 weeks after the sample is received by the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A pre-test genetic counseling session is needed to review clinical history and draw a three-generation pedigree of family members affected with RRM1-related disease or neurological disorders.

Method: Peripheral blood draw, cheek swab, or one drop blood on FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect the blood sample in an EDTA tube, or a few drops of blood may be placed on an FTA card. If extracted DNA is being submitted, it is transferred in a sterile, labeled DNA tube.

Step 3

Report Delivery

No special restrictions are required after sample collection. FTA card samples should be air-dried and stored in a protective sleeve before shipment. EDTA samples should reach the laboratory within the transport stability window.

Timeline: Reports are typically delivered in 3 to 4 weeks after the sample is received by the laboratory.

Patient Instructions

1
Before the Test:Complete a genetic counseling session and provide the clinical history and family pedigree.
2
During the Test:The sample will be collected (blood, FTA card, or extracted DNA). The procedure is simple and takes only a few minutes.
3
After the Test:No activity restriction. Wait for the report to be shared as per the 3-4 week turnaround time.

About This Test

Who Should Get This Test

The purpose of this RRM1-related NGS genetic test is to provide a molecular analysis of the RRM1 gene for individuals with autism spectrum disorder or related neurodevelopmental concerns. It is intended to aid in identifying a possible genetic underpinning for the condition, support informed genetic counseling, and allow the family to make more informed reproductive decisions. This test is not a standalone diagnostic test for autism.

How to Prepare

  • No fasting is required for this test.
  • Please carry a valid prescription or clinical referral if available.
  • Share the patient's clinical history and any prior genetic test reports during counseling.
  • EDTA blood should be mixed gently to prevent clotting.

Doctor's Notes

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

"Genetic testing for autism spectrum disorder is best interpreted in the context of a complete developmental assessment and a three-generation family history. Pre-test genetic counseling is essential to help families understand the scope, limitations and possible implications of an RRM1-related NGS test."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml whole blood in EDTA / 1-2 µg extracted DNA / one FTA card spot
ContainerEDTA vacutainer / sterile DNA tube / FTA card
Collection MethodPeripheral blood draw, cheek swab, or one drop blood on FTA card

Sample Stability

Whole blood in EDTA: 24-48 hours at room temperature
Extracted DNA: stable for weeks at -20°C
FTA card blood spot: stable for months at room temperature
Sample Rejection Criteria:
  • Hemolyzed, clotted, or incorrectly labelled blood sample
  • Sample received outside the transport stability window
  • Insufficient extracted DNA quantity
  • Missing or unclear clinical indication/referral information

Understanding Your Results

The report should be interpreted by a qualified clinical geneticist in the context of the individual’s medical history, family history, physical findings, and behavioral evaluation.
Pathogenic or likely pathogenic variant: may support RRM1-related genetic contribution; genetic counseling and targeted family testing are recommended.
Variant of uncertain significance (VUS): lacks sufficient evidence for clinical diagnosis; additional studies, family segregation, and clinician review are required.
No pathogenic variant detected: does not exclude a genetic or non-genetic cause; broader genetic testing may be discussed with the treating clinician.
⚠️ When to Consult a Doctor:

If a child shows delayed speech, reduced social interaction, repetitive behavior, sensory sensitivities, or loss of previously acquired skills, a pediatrician, developmental specialist, neurologist, or clinical geneticist should be consulted. This test should only be booked after appropriate clinical assessment and genetic counseling.

Limitations

  • ⚠This test analyses only the RRM1 gene; mutations in other genes associated with autism spectrum disorder will not be detected.
  • ⚠NGS may not reliably detect large deletions/duplications, repeat expansions, or deep intronic/regulatory variants.
  • ⚠A variant of uncertain significance (VUS) does not provide a definitive diagnosis and may require family segregation studies.
  • ⚠A negative result does not rule out a genetic or non-genetic cause of the clinical presentation.

Risks & Considerations

  • ●Minimal risk from blood collection such as bruising, bleeding, or local infection
  • ●Psychological impact of receiving a positive, uncertain, or negative genetic result
  • ●Possibility that a variant of uncertain significance is found

Interfering Factors

  • ●Insufficient DNA quantity or quality
  • ●Sample contamination during collection
  • ●Degraded DNA due to delayed transport or improper storage
  • ●Technical sequencing artifacts affecting variant calling

Compare With Similar Tests

TestRRM1 Gene Autism, RRM1 Related NGS Genetic TestChromosomal Microarray (CMA)FMR1 Repeat Expansion TestAutism/Intellectual Disability NGS PanelWhole Exome Sequencing (WES)
ComparisonRRM1 Gene Autism, RRM1 Related NGS Genetic Test

Frequently Asked Questions

What is the RRM1 gene?
The RRM1 gene provides instructions for making the large subunit of ribonucleotide reductase, an enzyme involved in DNA synthesis and DNA repair. It is essential for normal cellular function and is especially important during brain development.
What is RRM1 gene autism?
RRM1 gene autism refers to autism spectrum disorder that may be associated with a genetic variant in the RRM1 gene. Research has investigated RRM1 variants in people with autism, but RRM1 is only one of many genes that have been studied in relation to ASD.
What are the symptoms of RRM1 gene autism?
The symptoms are similar to other forms of autism and may include difficulty with communication, reduced interest in social interaction, repetitive behaviors, delayed speech and language skills, limited eye contact, and sensitivity to sensory input.
How is RRM1-related autism diagnosed?
A complete clinical assessment by a specialist is required first. Genetic testing using NGS can then help identify mutations in the RRM1 gene that may be associated with autism. There is no single clinical test that diagnoses RRM1 gene autism.
What is NGS genetic testing?
Next-Generation Sequencing is a high-throughput DNA sequencing technology that can analyze specific genes or the entire exome. For this test, NGS is used to sequence the RRM1 gene and look for clinically significant variants.
What sample is needed for the RRM1 NGS genetic test?
The sample can be blood, extracted DNA, or one drop of blood placed on an FTA card. The sample type is selected during the booking or counseling process.
Is fasting required for this test?
No, fasting is not required for the RRM1 gene autism NGS genetic test.
When will I get the report?
The report will be available within 3 to 4 weeks from the time the laboratory receives the sample.
What is the price of the RRM1 related NGS genetic test?
The special discounted price at DNA Labs India is Rs 20000, which includes free home sample collection in selected cities across India.
Will I receive raw data with the clinical report?
Yes. DNA Labs India shares raw data files in FASTQ and VCF formats along with the conclusive clinical report to maintain full transparency.
Can a negative RRM1 NGS result rule out autism?
No. A negative result means no pathogenic variant was found in the RRM1 gene. Autism is genetically heterogeneous, and other genetic or non-genetic causes are possible.
Is genetic counseling required before this test?
Yes. A genetic counseling session is required before testing to draw a pedigree chart and document family history of RRM1 gene autism-related neurological disorders.
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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