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RAD51 Gene Mirror movements type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

RAD51 Gene Mirror movements type 2 NGS Genetic Test

Short Name: RAD51 Mirror Movements Type 2 Test

Also known as: RAD51 Gene Sequencing Test, Congenital Mirror Movement Disorder Type 2 Genetic Test, RAD51 NGS Panel Test, CMMD2 Genetic Test, RAD51 Mutation Analysis Test

RAD51 Gene Mirror movements type 2 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 Results are available within 3 to 4 weeks from the date of sample collection.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The primary purpose of the RAD51 Gene Mirror Movements Type 2 NGS Genetic Test is to confirm the molecular diagnosis of Congenital Mirror Movement Disorder Type 2 by identifying pathogenic or likely pathogenic mutations in the RAD51 gene. This test aids clinicians in differentiating RAD51-related mirror movements from other genetic and non-genetic movement disorders, enables carrier status determination for at-risk family members, supports genetic counselling and family planning decisions, and contributes to a better understanding of the patient's prognosis and appropriate management strategies.

Test Code
1725
CPT Code
81479
ICD Code
G80.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are available within 3 to 4 weeks from the date of sample collection.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation such as fasting is required. A pre-test genetic counselling session is recommended to discuss the clinical history of the patient, draw a pedigree chart of family members affected with mirror movements, and obtain informed consent. Bring any previous medical records, neurological evaluation reports, and family history information.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect 3-5 mL of peripheral venous blood using standard venipuncture technique into an EDTA (Lavender Top) vacutainer. Alternatively, extracted DNA or one drop of blood on an FTA card may be submitted. The procedure typically takes 5-10 minutes and involves minimal discomfort.

Step 3

Report Delivery

After sample collection, gentle pressure should be applied to the venipuncture site. The sample will be transported under appropriate conditions to the laboratory for processing. Results will be available within 3 to 4 weeks and delivered via the online portal, email, or WhatsApp. A post-test genetic counselling session is recommended to discuss results and implications.

Timeline: Results are available within 3 to 4 weeks from the date of sample collection.

Patient Instructions

1
Before the Test:Schedule a pre-test genetic counselling session to discuss the clinical history, family pedigree, and implications of testing. No fasting is required. Inform the healthcare provider about any recent blood transfusions or bone marrow transplants. Sign the informed consent form prior to sample collection.
2
During the Test:A blood sample of 3-5 mL will be collected via standard venipuncture into an EDTA tube. The procedure takes approximately 5-10 minutes and involves minimal discomfort similar to a routine blood draw. The sample is then sent to the laboratory for NGS-based analysis of the RAD51 gene.
3
After the Test:After sample collection, apply gentle pressure to the venipuncture site. Results are typically available within 3 to 4 weeks. A post-test genetic counselling session is recommended to discuss the results, their implications, and any next steps including family screening or reproductive planning.

About This Test

Who Should Get This Test

The primary purpose of the RAD51 Gene Mirror Movements Type 2 NGS Genetic Test is to confirm the molecular diagnosis of Congenital Mirror Movement Disorder Type 2 by identifying pathogenic or likely pathogenic mutations in the RAD51 gene. This test aids clinicians in differentiating RAD51-related mirror movements from other genetic and non-genetic movement disorders, enables carrier status determination for at-risk family members, supports genetic counselling and family planning decisions, and contributes to a better understanding of the patient's prognosis and appropriate management strategies.

How to Prepare

  • Ensure the patient has not received a blood transfusion in the last 4 weeks
  • Collect 3-5 mL of venous blood in an EDTA (Lavender Top) vacutainer
  • Label the sample clearly with patient name, date of birth, and unique identifier
  • Gently invert the tube 8-10 times to mix blood with EDTA anticoagulant
  • Do not freeze the blood sample; store at room temperature (15-25°C) or 2-8°C
  • Transport the sample to the laboratory within 48-72 hours of collection
  • Alternatively, extracted DNA (minimum 50 ng/µL) or blood on FTA card is accepted

Doctor's Notes

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

"As a clinical geneticist, I recommend the RAD51 Gene Mirror Movements Type 2 NGS Genetic Test for patients presenting with congenital mirror movements, particularly when family history suggests autosomal recessive inheritance. Early molecular diagnosis enables precise genetic counselling, targeted carrier screening for at-risk family members, and informed reproductive decision-making. The NGS approach provides comprehensive coverage of the RAD51 gene coding regions and flanking intronic sequences, ensuring high diagnostic sensitivity for the detection of single nucleotide variants, small insertions and deletions. A confirmed diagnosis also helps differentiate RAD51-related mirror movements from other genetic and non-genetic causes of involuntary motor symptoms, guiding appropriate long-term neurological management."

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 of peripheral venous blood
ContainerEDTA (Lavender Top) Vacutainer
Collection MethodVenipuncture

Sample Stability

Whole blood in EDTA: Stable for 48-72 hours at room temperature (15-25°C)
Whole blood in EDTA: Stable for up to 7 days when stored at 2-8°C
Extracted DNA: Stable for up to 5 years when stored at -20°C
Blood on FTA Card: Stable for several years when stored at room temperature in a sealed bag
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume (less than 2 mL)
  • Improperly labeled or unlabeled samples
  • Samples collected in incorrect anticoagulant tubes
  • Samples older than 7 days without appropriate storage conditions
  • Contaminated samples

Understanding Your Results

The results of the RAD51 Gene Mirror Movements Type 2 NGS Genetic Test should be interpreted by a qualified clinical geneticist or genetic counsellor in conjunction with the patient's clinical presentation, family history, and other diagnostic findings. The report will indicate whether pathogenic, likely pathogenic, variants of uncertain significance (VUS), likely benign, or benign variants were identified in the RAD51 gene.
📊

Pathogenic Variant Detected

A mutation known to cause Mirror Movements Type 2 was identified in the RAD51 gene. This confirms the molecular diagnosis of CMMD2. Genetic counselling is recommended for the patient and family members.

📊

Likely Pathogenic Variant Detected

A variant was identified that is predicted to be disease-causing based on available evidence. Correlation with clinical findings and family studies is recommended. Genetic counselling is advised.

📊

Variant of Uncertain Significance (VUS)

A variant was identified, but current evidence is insufficient to determine whether it is pathogenic or benign. Further testing, family segregation studies, and clinical correlation may be needed. This result should not be used for clinical decision-making without additional information.

📊

Likely Benign Variant Detected

A variant was identified that is unlikely to be associated with Mirror Movements Type 2. Clinical correlation is recommended.

📊

No Pathogenic Variant Detected

No known pathogenic or likely pathogenic variants were identified in the RAD51 gene. This result does not completely exclude a genetic cause for the patient's symptoms, as mutations in other genes may be responsible. Additional genetic testing may be considered.

⚠️ When to Consult a Doctor:

You should consult a doctor if you or your child experiences involuntary mirrored movements of the limbs that are present from birth or early childhood, difficulty with fine motor tasks, muscle stiffness, impaired bimanual coordination, or any symptoms suggestive of a congenital mirror movement disorder. Additionally, consult a clinical geneticist if there is a known family history of mirror movements or if carrier status needs to be determined for family planning purposes.

Limitations

  • This test does not detect mutations in other genes associated with mirror movement disorders (e.g., DCC gene for CMMD1)
  • Large structural variants, copy number variations, and deep intronic mutations may not be reliably detected by standard NGS
  • Variants of uncertain significance (VUS) may be identified and require further evaluation
  • Results must be interpreted in the context of clinical presentation, family history, and additional diagnostic findings
  • Mosaicism at low levels may not be detected
  • The test does not rule out other genetic or acquired causes of involuntary movements

Risks & Considerations

  • Minimal risk associated with blood collection, including minor bruising, swelling, or infection at the venipuncture site
  • Psychological impact of receiving genetic test results, particularly if a pathogenic variant is identified
  • Potential identification of variants of uncertain significance that may cause anxiety or require further testing
  • Implications for family members who may need carrier or diagnostic testing based on the results

Interfering Factors

  • Recent blood transfusion within the past 4 weeks may affect DNA quality
  • Bone marrow or stem cell transplant may yield donor DNA instead of patient DNA
  • Degraded or hemolyzed blood samples may reduce sequencing quality
  • Sample contamination during collection or transport may impact results

Compare With Similar Tests

TestRAD51 Gene Mirror movements type 2 NGS Genetic TestDCC Gene Mirror Movements Type 1 NGS Genetic TestNeurological Gene Panel NGS TestWhole Exome Sequencing (WES) TestRAD51C Gene Sequencing Test
ComparisonRAD51 Gene Mirror movements type 2 NGS Genetic TestTests for mutations in the DCC gene associated with autosomal dominant congenital mirror movement disorder (CMMD1). Use this test when CMMD1 is clinically suspected rather than CMMD2.A comprehensive panel testing multiple genes associated with neurological disorders including movement disorders. Broader in scope but may not provide the same depth of analysis for the RAD51 gene.Analyzes all protein-coding genes in the genome. Useful when the specific genetic cause is unknown or when targeted gene testing is inconclusive. Higher cost and longer turnaround time.Tests for mutations in the RAD51C gene, a paralog of RAD51, which is associated with cancer predisposition (breast and ovarian cancer) rather than mirror movement disorders.

Frequently Asked Questions

What is the RAD51 Gene Mirror Movements Type 2 NGS Genetic Test?
The RAD51 Gene Mirror Movements Type 2 NGS Genetic Test is a next-generation sequencing (NGS) based diagnostic test that analyzes the RAD51 gene for mutations responsible for Congenital Mirror Movement Disorder Type 2 (CMMD2). It helps confirm the molecular diagnosis of this rare autosomal recessive neurological condition.
Who should take this genetic test?
This test is recommended for individuals presenting with involuntary mirrored movements of the limbs from early childhood, patients with a clinical suspicion of Congenital Mirror Movement Disorder Type 2, family members of affected individuals seeking carrier status determination, and couples with a family history of the condition who are planning a pregnancy.
What is Mirror Movements Type 2 and what causes it?
Mirror Movements Type 2 (OMIM #614508) is a rare autosomal recessive neurological disorder characterized by involuntary symmetrical movements of the limbs. When an individual intentionally moves one hand, the other hand involuntarily mirrors the same movement. It is caused by biallelic pathogenic mutations in the RAD51 gene, which is involved in DNA repair through homologous recombination.
How is the test performed and what sample is required?
The test requires a blood sample (3-5 mL collected in an EDTA tube), extracted DNA, or one drop of blood on an FTA card. The sample undergoes next-generation sequencing to analyze the entire coding region of the RAD51 gene for pathogenic mutations. No fasting is required prior to sample collection.
What is the cost of the RAD51 Gene Mirror Movements Type 2 NGS Genetic Test?
The cost of the RAD51 Gene Mirror Movements Type 2 NGS Genetic Test at DNA Labs India is INR 20,000 (Rs 20,000.0). This includes sample collection, NGS analysis, genetic counselling, and report delivery.
Is home sample collection available for this test?
Yes, DNA Labs India offers complimentary home sample collection for online bookings of this test across numerous cities in India. A trained phlebotomist will visit your location to collect the blood sample at your convenience.
How long does it take to receive the test results?
Results for the RAD51 Gene Mirror Movements Type 2 NGS Genetic Test are typically available within 3 to 4 weeks from the date of sample collection. Reports are delivered through the online portal, email, or WhatsApp.
What does a positive result mean?
A positive result indicating a pathogenic or likely pathogenic variant in the RAD51 gene confirms the molecular diagnosis of Congenital Mirror Movement Disorder Type 2. This information can guide clinical management, enable carrier testing for family members, and support genetic counselling for reproductive planning.
Is Mirror Movements Type 2 an inherited condition?
Yes, Mirror Movements Type 2 is inherited in an autosomal recessive pattern. This means both copies of the RAD51 gene must carry a pathogenic mutation for the condition to manifest. Parents of an affected individual are typically carriers who have one mutated copy but do not show symptoms.
Can this test be used for prenatal or preconception carrier screening?
Yes, the RAD51 Gene Mirror Movements Type 2 NGS Genetic Test can be used for carrier testing in family members of affected individuals. Carrier status information is valuable for prenatal diagnosis, preconception planning, and reproductive genetic counselling. A genetic counsellor can provide guidance on the implications of carrier status.
Is genetic counselling recommended before and after this test?
Yes, pre-test and post-test genetic counselling are strongly recommended. Pre-test counselling helps patients understand the purpose, implications, and possible outcomes of the test. Post-test counselling assists in interpreting results, understanding inheritance patterns, and making informed decisions about family screening and reproductive planning.
What if no pathogenic variant is found but symptoms persist?
A negative result does not completely exclude a genetic cause for mirror movements. Mutations in other genes (such as DCC for CMMD1) may be responsible, or the variant may not be detectable by current methods. Your geneticist may recommend additional testing such as a neurological gene panel, whole exome sequencing, or further clinical evaluation.
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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