VLDLR Gene Cerebellar Hypoplasia and Mental Retardation with or without Quadrupedal Locomotion Type 1 NGS Genetic Test
Short Name: VLDLR Gene CHMR QL Type 1 NGS Test
Also known as: VLDLR Cerebellar Hypoplasia NGS Test, Cerebellar Hypoplasia Mental Retardation Quadrupedal Locomotion Type 1 Genetic Test, CPHMR1 Genetic Test, VLDLR Gene Sequencing Test, VLDLR-Associated Cerebellar Hypoplasia DNA Test
VLDLR Gene Cerebellar Hypoplasia and Mental Retardation with or without Quadrupedal Locomotion Type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatic Pipeline Analysis, ACMG/AMP Variant Classification on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 weeks from the date of sample receipt at the laboratory. 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 this test is to identify pathogenic or likely pathogenic variants in the VLDLR gene that cause cerebellar hypoplasia, intellectual disability, and quadrupedal locomotion. This test aids in confirming a clinical diagnosis, differentiating VLDLR-associated cerebellar hypoplasia from other genetic and non-genetic causes of cerebellar disorders, guiding genetic counselling and family planning decisions, enabling carrier testing for at-risk family members, and facilitating appropriate developmental and rehabilitative interventions for affected individuals.
- Test Code
- 1546
- CPT Code
- 81479
- ICD Code
- Q04.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from the date of sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatic Pipeline Analysis, ACMG/AMP Variant Classification
Sample Collection
No special preparation or fasting is required. Ensure the patient or guardian has provided informed consent and completed the clinical history form. Genetic counselling is recommended prior to sample collection to discuss the implications of testing, possible outcomes, and family pedigree analysis.
Method: Venipuncture
Laboratory Analysis
A qualified phlebotomist will collect 3-5 mL of peripheral venous blood in an EDTA (lavender-top) tube under aseptic conditions. Alternatively, one drop of blood may be spotted onto an FTA card. The sample will be labelled with the patient's details and stored at ambient room temperature for transport.
Report Delivery
The sample will be dispatched to the DNA Labs India testing facility under controlled ambient conditions. Patients can expect report delivery within 3 to 4 weeks. A post-test genetic counselling session is recommended to discuss results and next steps.
Timeline: 3 to 4 weeks from the date of sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the VLDLR gene that cause cerebellar hypoplasia, intellectual disability, and quadrupedal locomotion. This test aids in confirming a clinical diagnosis, differentiating VLDLR-associated cerebellar hypoplasia from other genetic and non-genetic causes of cerebellar disorders, guiding genetic counselling and family planning decisions, enabling carrier testing for at-risk family members, and facilitating appropriate developmental and rehabilitative interventions for affected individuals.
How to Prepare
- Collect 3-5 mL peripheral venous blood in an EDTA (lavender-top) vacutainer tube
- Alternatively, collect one drop of blood on an FTA card and allow to dry completely
- Ensure proper labelling of the sample with patient name, date of birth, and unique ID
- Store the sample at ambient room temperature (15-30°C) until dispatch
- Do not freeze the blood sample; avoid exposure to extreme heat or direct sunlight
- Transport the sample to the testing laboratory within 48 hours of collection
- Include the completed test requisition form and clinical history with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"VLDLR-associated cerebellar hypoplasia is a rare autosomal recessive disorder. Families with a history of unexplained cerebellar ataxia, intellectual disability, or atypical gait patterns in children should consider genetic testing. Early identification through NGS testing allows for timely genetic counselling, family planning guidance, and appropriate developmental intervention strategies. Carrier testing for at-risk family members is also recommended."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper identification or labelling
- Heparinised blood sample instead of EDTA
- Clotted or haemolysed blood sample
- Insufficient sample volume (less than 2 mL)
- Sample received without completed requisition form or clinical history
- FTA card with incomplete blood spot or signs of contamination
Understanding Your Results
No Pathogenic Variant Detected
No disease-causing variants were identified in the VLDLR gene. This result does not completely exclude a genetic basis for the patient's condition, as mutations in other genes or undetectable structural variants may be responsible. Clinical correlation and further testing may be warranted.
Pathogenic or Likely Pathogenic Variant(s) Detected (Homozygous)
Two copies of a pathogenic or likely pathogenic variant were identified in the VLDLR gene, consistent with an autosomal recessive inheritance pattern. This finding supports a diagnosis of VLDLR-associated cerebellar hypoplasia (CPHMR1). Genetic counselling is strongly recommended.
Pathogenic or Likely Pathogenic Variant(s) Detected (Heterozygous Carrier)
One copy of a pathogenic or likely pathogenic variant was identified. The individual is a carrier of VLDLR-associated cerebellar hypoplasia. Carrier testing of the partner is recommended for family planning purposes. The individual is not expected to show clinical symptoms of the disorder.
Variant of Uncertain Significance (VUS) Detected
A variant of uncertain significance was identified in the VLDLR gene. Current evidence is insufficient to classify this variant as pathogenic or benign. Clinical correlation, family segregation analysis, and periodic reclassification as new evidence emerges are recommended.
Consult a clinical geneticist, neurologist, or genetic counsellor if the test result identifies a pathogenic or likely pathogenic variant in the VLDLR gene, if a VUS is detected and clinical suspicion remains high, if the test is negative but the patient's clinical features strongly suggest a genetic cerebellar disorder, or if you require guidance on family planning, recurrence risk assessment, or developmental intervention strategies for the affected individual.
Limitations
- ⚠This test analyses only the VLDLR gene and does not detect variants in other genes associated with cerebellar hypoplasia
- ⚠Deep intronic regulatory variants and large structural rearrangements beyond the detection range of NGS may not be identified
- ⚠Variants of Uncertain Significance (VUS) may be detected and require periodic reclassification as new data become available
- ⚠This test does not rule out non-genetic causes of cerebellar hypoplasia such as prenatal infections or vascular events
- ⚠Pseudogene interference and homologous regions may limit variant detection in specific exonic regions
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very rare risk of infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis; genetic counselling is recommended
- ●Possibility of detecting incidental findings or variants of uncertain significance that may cause anxiety
Interfering Factors
- ●Degraded or low-quality DNA samples may affect sequencing coverage and accuracy
- ●Recent blood transfusion within the past 30 days may result in mixed DNA profiles
- ●Sample contamination during collection or transport may compromise results
- ●Heparin-contaminated samples can interfere with NGS library preparation
- ●Mosaicism at low allele fractions may not be reliably detected
Compare With Similar Tests
| Test | VLDLR Gene Cerebellar Hypoplasia and Mental Retardation with or without Quadrupedal Locomotion Type 1 NGS Genetic Test | MRI Brain | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Sanger Sequencing of VLDLR |
|---|---|---|---|---|---|
| Comparison | VLDLR Gene Cerebellar Hypoplasia and Mental Retardation with or without Quadrupedal Locomotion Type 1 NGS Genetic Test | MRI can identify cerebellar hypoplasia and cortical malformations but cannot determine the underlying genetic cause. The VLDLR NGS test provides a molecular-level diagnosis. | WES analyses all protein-coding genes and may detect VLDLR mutations along with mutations in other genes. The VLDLR-specific NGS test is more targeted and cost-effective for suspected cases. | CMA detects large chromosomal deletions and duplications but may miss single nucleotide variants in VLDLR. The NGS test specifically identifies point mutations and small indels. | Sanger sequencing can analyse the VLDLR gene but is limited to one exon at a time and has lower throughput. NGS provides comprehensive, high-throughput sequencing with greater sensitivity. |
Frequently Asked Questions
What is VLDLR Gene Cerebellar Hypoplasia and Mental Retardation with or without Quadrupedal Locomotion Type 1?
What are the common symptoms of VLDLR-associated cerebellar hypoplasia?
How is VLDLR gene cerebellar hypoplasia diagnosed?
What sample is required for the VLDLR NGS Genetic Test?
How long does it take to receive the test results?
What is the cost of the VLDLR Gene NGS Genetic Test in India?
Is the VLDLR NGS Genetic Test available across India?
What does a positive result (pathogenic variant detected) mean?
Is genetic counselling recommended before and after this test?
Can this test detect carrier status for VLDLR mutations?
What raw data files does DNA Labs India provide with the test report?
Is this genetic test covered by health insurance or government schemes in India?
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