WDR81 Gene Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2 NGS Genetic Test
Short Name: WDR81 Gene NGS Genetic Test
Also known as: CAMRQ2, SCAR2, Spinocerebellar Ataxia Autosomal Recessive Type 2, Cerebellar Ataxia Mental Retardation and Dysequilibrium Syndrome Type 2, Mental Retardation with Cerebellar Ataxia and Dysequilibrium Syndrome Type 2
WDR81 Gene Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required) 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 the date of sample receipt at the laboratory. Urgent cases may be prioritized upon request. Results are delivered via the DNA Labs India online portal, email, and WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the WDR81 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the WDR81 gene that cause cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2 (CAMRQ2). This test enables definitive molecular diagnosis, facilitates genetic counselling for affected families, supports carrier screening for at-risk relatives, and assists clinicians in developing appropriate management and rehabilitation plans for affected individuals.
- Test Code
- 1683
- ICD Code
- G11.1, F79
- 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 the date of sample receipt at the laboratory. Urgent cases may be prioritized upon request. Results are delivered via the DNA Labs India online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required)
Sample Collection
A genetic counselling session is recommended before sample collection to obtain informed consent, discuss the implications of testing, and draw a detailed pedigree chart of family members affected with or at risk for WDR81-related disorder. The patient's clinical history, including neurological examination findings, developmental milestones, and neuroimaging results, should be documented.
Method: Venipuncture or FTA Card Spot
Laboratory Analysis
Blood is collected via standard venipuncture into an EDTA (lavender top) tube. Alternatively, one drop of blood can be spotted onto an FTA card. The sample should be labeled correctly with the patient's name, date of birth, and unique identification number. The collection site should follow standard phlebotomy protocols.
Report Delivery
The blood sample or FTA card should be stored and transported at ambient room temperature. Blood samples in EDTA tubes should ideally reach the laboratory within 48-72 hours of collection. FTA cards can be stored at room temperature for extended periods. Results are typically available within 3 to 4 weeks and will be delivered via the online portal, email, and WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Urgent cases may be prioritized upon request. Results are delivered via the DNA Labs India online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the WDR81 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the WDR81 gene that cause cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2 (CAMRQ2). This test enables definitive molecular diagnosis, facilitates genetic counselling for affected families, supports carrier screening for at-risk relatives, and assists clinicians in developing appropriate management and rehabilitation plans for affected individuals.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (Lavender Top) tube via standard venipuncture.
- Alternatively, collect one drop of blood on an FTA card and allow it to air dry completely.
- Label the sample with patient's full name, date of birth, sample collection date, and unique ID.
- Ensure the EDTA tube is gently inverted 8-10 times immediately after collection to prevent clotting.
- Store and transport the sample at ambient room temperature. Do not freeze.
- Ship the sample to DNA Labs India within 48-72 hours of collection for optimal DNA quality.
- Include the signed requisition form, informed consent, and clinical history summary with the sample.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The WDR81 gene test is a critical diagnostic tool for families with suspected autosomal recessive cerebellar ataxia and intellectual disability. Early genetic confirmation through NGS allows for accurate genetic counselling, informed family planning, and tailored rehabilitation strategies. I recommend this test for any patient presenting with the triad of developmental delay, progressive ataxia, and dysequilibrium where other common causes have been excluded. Identifying the causative mutation also enables carrier testing for at-risk family members and informed prenatal counselling for future pregnancies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Severely hemolyzed or clotted blood samples
- Insufficient sample volume for DNA extraction
- Improperly labeled or unlabeled samples
- Samples received without signed consent form or requisition
- Contaminated FTA cards or samples with visible mold growth
- Samples collected in incorrect tube type (non-EDTA tubes)
Understanding Your Results
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the WDR81 gene. This result reduces the likelihood that the patient's symptoms are caused by mutations in this gene, but does not completely exclude the possibility, as some mutations may lie outside the tested regions. Clinical correlation and further evaluation with additional genetic testing (e.g., whole exome sequencing) may be considered.
Pathogenic Variant Detected (Homozygous)
A homozygous pathogenic variant was identified in the WDR81 gene, consistent with autosomal recessive CAMRQ2. This confirms the molecular diagnosis. Both parents are expected to be carriers. Genetic counselling is recommended for family planning, and carrier testing should be offered to at-risk family members.
Pathogenic Variant Detected (Compound Heterozygous)
Two different pathogenic or likely pathogenic variants were identified in the WDR81 gene in trans configuration (on different alleles), consistent with compound heterozygous CAMRQ2. This confirms the molecular diagnosis. Parental testing is recommended to confirm the trans configuration of the variants.
Variant of Uncertain Significance (VUS)
A variant of uncertain significance was detected in the WDR81 gene. Currently, there is insufficient evidence to classify this variant as pathogenic or benign. Clinical correlation is essential. Family studies, functional analysis, and periodic reclassification may help determine the significance of the variant. This result alone is not diagnostic.
Carrier Detected (Heterozygous Pathogenic Variant)
A single heterozygous pathogenic variant was identified in the WDR81 gene, indicating the individual is a carrier of CAMRQ2. Carriers are typically unaffected but have a 50% chance of passing the variant to each offspring. If the partner is also a carrier, each child has a 25% risk of being affected.
Consult a clinical geneticist or neurologist if the test result is positive (pathogenic variant detected), if a variant of uncertain significance is identified, or if clinical symptoms persist despite a negative result. Families with a confirmed WDR81 mutation should seek genetic counselling for family planning, prenatal testing options, and cascade carrier screening for at-risk relatives.
Limitations
- ⚠This test targets the coding regions and exon-intron boundaries of the WDR81 gene only; deep intronic, regulatory, or promoter region variants may not be detected
- ⚠Large deletions or duplications (copy number variants) may require additional testing such as MLPA or array CGH
- ⚠Variants of uncertain significance (VUS) may be identified that cannot be definitively classified at the time of reporting
- ⚠This test does not screen for mutations in other genes associated with cerebellar ataxia or intellectual disability
- ⚠The clinical significance of novel variants may evolve as new data become available; reanalysis may be warranted
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Slight risk of infection at the needle puncture site (very rare with proper technique)
- ●Emotional or psychological impact of receiving genetic test results, especially positive findings
- ●Risk of identifying variants of uncertain significance that may cause anxiety or uncertainty
- ●Potential implications for life insurance or health insurance (consult local regulations regarding genetic non-discrimination)
Interfering Factors
- ●Hemolyzed blood samples may affect DNA extraction quality and sequencing results
- ●Recent blood transfusion (within 120 days) may interfere with variant detection
- ●Low-quality or degraded DNA may result in insufficient sequencing coverage
- ●Sample contamination during collection or transport may compromise results
- ●Mosaicism at low levels may not be reliably detected by standard NGS protocols
Compare With Similar Tests
| Test | WDR81 Gene Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2 NGS Genetic Test | Whole Exome Sequencing (WES) | Sanger Sequencing | Cerebellar Ataxia Gene Panel | Chromosomal Microarray Analysis (CMA) | Whole Genome Sequencing (WGS) |
|---|---|---|---|---|---|---|
| Comparison | WDR81 Gene Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2 NGS Genetic Test | WES analyzes all protein-coding genes in the genome and is suitable when the specific causative gene is unknown. The WDR81-specific NGS test provides targeted, in-depth analysis of the WDR81 gene with higher coverage depth, potentially offering greater sensitivity for detecting variants in this gene at a lower cost. | Sanger sequencing is a traditional method that reads one DNA fragment at a time. NGS provides massively parallel sequencing of the WDR81 gene, offering higher throughput, better coverage, and the ability to detect low-frequency variants. NGS is generally more cost-effective for multi-exon genes like WDR81. | A cerebellar ataxia gene panel tests multiple genes associated with ataxia simultaneously. The WDR81-specific test offers focused analysis when CAMRQ2 is clinically suspected, whereas the gene panel is more suitable when the differential diagnosis is broad and multiple genetic etiologies need to be evaluated. | CMA detects large chromosomal deletions and duplications (copy number variants) but does not identify point mutations or small insertions/deletions in specific genes like WDR81. The WDR81 NGS test is superior for detecting single nucleotide variants and small indels. CMA and NGS are complementary approaches. | WGS analyzes the entire genome including non-coding regions and provides the most comprehensive genetic analysis. However, it is significantly more expensive and generates large volumes of data requiring extensive analysis. The targeted WDR81 NGS test provides a focused, cost-effective, and clinically actionable result for suspected CAMRQ2. |
Frequently Asked Questions
What is the WDR81 Gene Mental Retardation with Cerebellar Ataxia and Dysequilibrium Syndrome Type 2 NGS Genetic Test?
What symptoms indicate that the WDR81 Gene NGS Genetic Test may be needed?
What sample types are accepted for this test?
How long does it take to receive the test results?
What is the cost of the WDR81 Gene NGS Genetic Test?
Is home sample collection available for this test?
How is the WDR81-related condition inherited?
What is the difference between NGS and traditional Sanger sequencing for genetic testing?
Is genetic counselling recommended before and after this test?
Can this test be performed on children and newborns?
What happens if a pathogenic variant is detected in the WDR81 gene?
Does DNA Labs India provide raw data files along with the clinical test report?
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