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WDR81 Gene Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2 NGS Genetic Test

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WDR81 Gene Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2 NGS Genetic Test

Short Name: WDR81 CAMRQ2 NGS Test

Also known as: WDR81 Gene Mutation Analysis, CAMRQ2 Genetic Test, Cerebellar Ataxia Mental Retardation Dysequilibrium Syndrome Type 2 DNA Test, WDR81 NGS Sequencing Test

WDR81 Gene Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NeurologistUnisexAll 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 WDR81 Gene CAMRQ2 NGS Genetic Test is performed to identify pathogenic mutations in the WDR81 gene responsible for Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2. This test aids in confirming the clinical diagnosis, distinguishing CAMRQ2 from other cerebellar and neurological disorders, facilitating genetic counseling for affected families, enabling carrier status determination for family members, supporting prenatal or preimplantation genetic testing decisions, and guiding long-term management and supportive care strategies.

Test Code
1542
CPT Code
81479
ICD Code
G11.1
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation
Step 1

Sample Collection

A genetic counseling session is recommended prior to sample collection. Clinical history of the patient and a pedigree chart of affected family members should be prepared. No fasting is required. Inform the laboratory about any recent blood transfusions.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample of 3-5 mL will be collected via venipuncture into an EDTA (lavender top) tube. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The procedure takes approximately 5-10 minutes.

Step 3

Report Delivery

Apply pressure to the puncture site for 3-5 minutes. The sample is transported at ambient room temperature to the laboratory. No specific post-collection restrictions apply.

Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:No special preparation or fasting is required. A pre-test genetic counseling session is recommended to discuss the clinical history, family history, and draw a pedigree chart of family members affected with cerebellar ataxia or related neurological conditions. The clinical history of the patient should be provided to the laboratory.
2
During the Test:A blood sample of 3-5 mL is collected via venipuncture into an EDTA tube, or one drop of blood is applied to an FTA card, or previously extracted DNA is submitted. The sample collection takes approximately 5-10 minutes and is performed by a trained phlebotomist at the lab or during home collection.
3
After the Test:After sample collection, slight bruising at the puncture site may occur and typically resolves within a few days. No activity restrictions are required. Results will be available in 3-4 weeks through the online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The WDR81 Gene CAMRQ2 NGS Genetic Test is performed to identify pathogenic mutations in the WDR81 gene responsible for Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2. This test aids in confirming the clinical diagnosis, distinguishing CAMRQ2 from other cerebellar and neurological disorders, facilitating genetic counseling for affected families, enabling carrier status determination for family members, supporting prenatal or preimplantation genetic testing decisions, and guiding long-term management and supportive care strategies.

How to Prepare

  • Blood sample must be collected in an EDTA (lavender top) tube
  • Ensure proper labeling of the sample with patient details
  • FTA card option: apply one drop of blood and allow to air dry completely
  • Extracted DNA must be provided in a minimum quantity of 1 microgram
  • Sample should be stored and transported at ambient room temperature
  • Avoid hemolysis during blood collection

Doctor's Notes

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

"CAMRQ2 is a rare autosomal recessive cerebellar disorder that presents in early childhood with progressive ataxia, intellectual disability, and dysequilibrium. Early molecular diagnosis through NGS-based genetic testing of the WDR81 gene is essential for accurate diagnosis, genetic counseling, family planning guidance, and initiating appropriate supportive therapies. Clinicians should consider this diagnosis in children presenting with non-progressive or slowly progressive cerebellar ataxia accompanied by cognitive impairment."

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
ContainerEDTA (Lavender Top) Tube or FTA Card
Collection MethodVenipuncture

Sample Stability

EDTA Blood at Ambient Temperature
EDTA Blood at 2-8 degrees Celsius
Extracted DNA at -20 degrees Celsius
FTA Card at Ambient Temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Samples collected in incorrect anticoagulant tubes
  • Insufficient sample volume
  • Samples with mismatched or missing patient identification
  • Heavily contaminated FTA card samples

Understanding Your Results

The results of the WDR81 Gene CAMRQ2 NGS Genetic Test are interpreted based on the presence, absence, and classification of genetic variants detected in the WDR81 gene. All variants are classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines into five categories: Pathogenic, Likely Pathogenic, Variants of Uncertain Significance (VUS), Likely Benign, and Benign. A genetic counselor or clinical geneticist should be consulted for detailed interpretation of the results in the context of the patient's clinical presentation and family history.
📊

No disease-causing mutations were identified in the WDR81 gene. This result does not completely exclude the diagnosis of CAMRQ2, as mutations in regulatory regions or other genes may be responsible. Clinical correlation and further genetic evaluation may be warranted.

Negative for WDR81 mutations

📊

Homozygous pathogenic or likely pathogenic variants were identified in the WDR81 gene, consistent with a diagnosis of CAMRQ2 in the context of compatible clinical features. Parents are expected to be carriers. Genetic counseling is recommended for the family.

Diagnostic confirmation of CAMRQ2

📊

Two different pathogenic or likely pathogenic variants were identified in the WDR81 gene in trans configuration, consistent with a diagnosis of CAMRQ2. Parental testing may be recommended to confirm phase. Genetic counseling is strongly advised.

Diagnostic confirmation of CAMRQ2

📊

Only one pathogenic variant was detected. The individual is a carrier. The second allele may harbour a variant not detectable by this method. Further investigation or family studies may be recommended.

Carrier status identified

📊

A variant of uncertain significance was identified. The clinical impact of this variant is currently unknown. Segregation analysis, functional studies, and clinical correlation are recommended to determine its pathogenicity.

Requires further evaluation

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if your child shows early-onset difficulty with walking and balance, delayed developmental milestones, intellectual disability, muscle stiffness, speech difficulties, or vision problems. If CAMRQ2 runs in your family or a previous child has been diagnosed with this condition, genetic counseling is strongly recommended before or during pregnancy.

Limitations

  • ⚠This test does not detect deep intronic mutations, large structural rearrangements outside the targeted region, or epigenetic changes
  • ⚠Variants of Uncertain Significance (VUS) may be identified and may require further evaluation
  • ⚠This test does not rule out mutations in other genes associated with cerebellar ataxia or related neurological conditions
  • ⚠A negative result does not completely exclude a genetic basis for the patient's clinical presentation
  • ⚠Genotype-phenotype correlations may not always be established for all detected variants

Risks & Considerations

  • ●Minor bruising or discomfort at the blood collection site
  • ●Emotional impact of receiving a genetic diagnosis
  • ●Risk of identifying variants of uncertain significance that may cause anxiety
  • ●Possible implications for other family members who may be carriers

Interfering Factors

  • ●Recent blood transfusion within the past 4 weeks may affect DNA quality
  • ●Degraded or insufficient DNA sample may require recollection
  • ●Contamination during sample collection may impact sequencing accuracy
  • ●Hemolyzed blood samples may yield suboptimal DNA extraction

Compare With Similar Tests

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ComparisonWDR81 Gene Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2 NGS Genetic Test

Frequently Asked Questions

What is Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2 (CAMRQ2)?
CAMRQ2 is a rare autosomal recessive genetic disorder caused by mutations in the WDR81 gene. It primarily affects the cerebellum, leading to problems with coordination, balance, and movement, along with intellectual disability. Symptoms typically appear in early childhood.
What causes CAMRQ2?
CAMRQ2 is caused by homozygous or compound heterozygous mutations in the WDR81 gene located on chromosome 17p13.1. The WDR81 gene encodes a protein important for normal cerebellar development and neuronal function. Mutations disrupt this protein's function, leading to the characteristic features of the disorder.
How is CAMRQ2 inherited?
CAMRQ2 is inherited in an autosomal recessive pattern. This means an affected child must inherit two copies of the mutated gene, one from each parent. Both parents are typically carriers who do not show symptoms. Each pregnancy carries a 25% chance of the child being affected.
What are the symptoms of CAMRQ2?
Common symptoms include difficulty walking and maintaining balance, delayed developmental milestones, muscle weakness and stiffness, intellectual disability or mental retardation, speech and language difficulties, and vision problems. Symptoms usually appear in early childhood and may progressively worsen over time.
How is CAMRQ2 diagnosed?
Diagnosis involves a combination of clinical neurological evaluation, neuroimaging studies such as MRI of the brain showing cerebellar abnormalities, and genetic testing. The WDR81 Gene CAMRQ2 NGS Genetic Test confirms the diagnosis by identifying specific mutations in the WDR81 gene.
What is the WDR81 gene?
The WDR81 gene is located on chromosome 17p13.1 and encodes WD repeat-containing protein 81. This protein is involved in normal cerebellar development and neuronal function. Mutations in this gene cause CAMRQ2, a rare cerebellar ataxia syndrome.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is an advanced genetic testing technology that allows simultaneous analysis of multiple genes or an entire gene region at high speed and accuracy. For CAMRQ2, NGS enables comprehensive sequencing of the WDR81 gene to detect all types of mutations including point mutations, small insertions, deletions, and copy number variations.
What sample is required for the WDR81 Gene NGS Genetic Test?
The test can be performed using a blood sample (3-5 mL collected in an EDTA tube), extracted DNA, or one drop of blood on an FTA card. No fasting is required prior to sample collection.
How long does it take to get the results of the WDR81 Gene NGS Genetic Test?
Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. The report is shared via online portal, email, and WhatsApp.
Is genetic counseling required before taking the WDR81 Gene NGS Genetic Test?
Yes, a genetic counseling session is strongly recommended before testing. During this session, the clinical history of the patient is reviewed, a pedigree chart of affected family members is drawn, and the implications of testing and possible results are discussed to help families make informed decisions.
What is the cost of the WDR81 Gene CAMRQ2 NGS Genetic Test in India?
The cost of the WDR81 Gene Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2 NGS Genetic Test at DNA Labs India is Rs 20,000. This includes sample collection, genetic analysis, a genetic counseling session, and the clinical report. Free home sample collection is available across India.
Can CAMRQ2 be cured?
Currently, there is no cure for CAMRQ2. Treatment focuses on supportive and symptomatic management, including physical therapy for motor difficulties, speech therapy, educational support for intellectual disability, and occupational therapy. Early diagnosis through genetic testing enables timely intervention and appropriate care planning.
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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