GRM1 Gene Spinocerebellar ataxia type 13, autosomal recessive NGS Genetic Test
Short Name: GRM1 SCA13 NGS Test
Also known as: SCA13 Genetic Test, GRM1 Mutation Analysis, Spinocerebellar Ataxia Type 13 DNA Test, GRM1 Gene Sequencing Test, Autosomal Recessive SCA13 NGS Test
GRM1 Gene Spinocerebellar ataxia type 13, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Pipeline Analysis, ACMG Variant Classification on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the GRM1 gene that cause autosomal recessive spinocerebellar ataxia type 13 (SCA13). This test aids in confirming a clinical diagnosis, differentiating SCA13 from other hereditary ataxias, enabling carrier identification in family members, informing genetic counseling and family planning, and guiding clinical management and rehabilitation strategies.
- Test Code
- 1845
- CPT Code
- 81405
- ICD Code
- G11.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Pipeline Analysis, ACMG Variant Classification
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 of any recent blood transfusions or bone marrow transplant.
Method: Venipuncture
Laboratory Analysis
A 3-5 mL venous blood sample is collected in an EDTA (lavender-top) vacutainer under standard aseptic conditions. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The sample is labeled with patient identifiers and transported at ambient room temperature.
Report Delivery
The sample is processed in the NGS laboratory. DNA extraction, library preparation, sequencing, bioinformatics analysis, and variant classification are performed. The clinical report along with raw data files (FASTQ and VCF) are made available within 3 to 4 weeks through the online portal, email, and WhatsApp.
Timeline: 3 to 4 Weeks from 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 mutations in the GRM1 gene that cause autosomal recessive spinocerebellar ataxia type 13 (SCA13). This test aids in confirming a clinical diagnosis, differentiating SCA13 from other hereditary ataxias, enabling carrier identification in family members, informing genetic counseling and family planning, and guiding clinical management and rehabilitation strategies.
How to Prepare
- Collect 3-5 mL venous blood in an EDTA (lavender-top) vacutainer
- Alternatively, submit one drop of blood on an FTA card or extracted DNA
- Label the sample clearly with patient name, date of birth, and unique ID
- Transport at ambient room temperature; do not freeze whole blood samples
- Ensure the requisition form includes clinical history and pedigree information
- Free home collection is available for online bookings across India
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Spinocerebellar ataxia type 13 caused by GRM1 gene mutations is a rare but clinically significant autosomal recessive disorder. Early genetic confirmation through NGS allows for accurate diagnosis, genetic counseling for at-risk family members, and informed clinical management. I recommend this test for any patient presenting with progressive cerebellar ataxia of unknown etiology, especially when there is a family history suggestive of autosomal recessive inheritance. Timely diagnosis helps guide rehabilitation strategies and family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in incorrect anticoagulant (e.g., heparin)
- Insufficient sample volume
- Heavily hemolyzed or clotted sample
- Sample without proper patient identification or requisition form
- Sample received without clinical history or pedigree information
Understanding Your Results
No disease-causing mutation was identified in the GRM1 gene. This does not fully exclude a genetic cause if clinical suspicion remains high. Further evaluation with expanded ataxia gene panels or whole exome sequencing may be considered.
The individual is a carrier of one pathogenic GRM1 variant. Carriers are typically unaffected but can pass the variant to offspring. Genetic counseling for family members is recommended.
Two pathogenic GRM1 variants identified, consistent with a molecular diagnosis of autosomal recessive SCA13. Clinical correlation and genetic counseling are advised.
A variant was identified that currently lacks sufficient evidence to classify as pathogenic or benign. Periodic reclassification is recommended as new data become available. Clinical correlation is essential.
Consult a neurologist or clinical geneticist if you or a family member experiences progressive difficulty with balance and coordination, slurred speech, uncontrolled eye movements, or unexplained motor difficulties — especially if there is a known family history of spinocerebellar ataxia. Early evaluation and genetic testing can clarify the diagnosis and inform management.
Limitations
- ⚠This test does not detect large structural rearrangements or deep intronic variants with certainty
- ⚠Variants of uncertain significance (VUS) may be identified and require further evaluation
- ⚠This test does not screen for other spinocerebellar ataxia genes beyond GRM1
- ⚠Results must be interpreted in the context of clinical findings and family history
- ⚠Negative results do not completely exclude a genetic basis for ataxia
Risks & Considerations
- ●Minimal risk associated with blood draw — minor bruising or discomfort at the venipuncture site
- ●Potential psychological impact of genetic results; genetic counseling is recommended before and after testing
- ●Identification of variants of uncertain significance may cause anxiety without providing a definitive diagnosis
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing coverage
- ●Hemolysis or improper sample storage can compromise results
- ●Recent blood transfusion within 4 weeks may affect variant detection
- ●Low mosaicism levels below detection threshold of NGS may not be identified
Compare With Similar Tests
| Test | GRM1 Gene Spinocerebellar ataxia type 13, autosomal recessive NGS Genetic Test | ATXN1 Gene SCA1 NGS Test | Comprehensive Spinocerebellar Ataxia Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | GRM1 Gene Spinocerebellar ataxia type 13, autosomal recessive NGS Genetic Test | SCA1 is caused by CAG trinucleotide repeat expansion in ATXN1 and follows autosomal dominant inheritance. SCA13 (GRM1) is autosomal recessive with point mutations. Different genetic mechanisms require distinct testing approaches. | A comprehensive panel covers multiple SCA genes simultaneously and is useful when the specific subtype is unknown. The GRM1-specific test provides focused analysis when SCA13 is clinically suspected. | WES analyzes all protein-coding genes and is suitable for undiagnosed neurological conditions. The GRM1 targeted test offers deeper coverage of the specific gene at a lower cost. |
Frequently Asked Questions
What is Spinocerebellar Ataxia Type 13 (SCA13)?
How is SCA13 inherited?
What symptoms should prompt me to consider this genetic test?
What sample is required for this test?
What is NGS and why is it used for this test?
How long does it take to get results?
Does DNA Labs India provide raw sequencing data?
Is genetic counseling required before taking this test?
Can this test identify carriers of SCA13?
Is this test available in my city?
What is the cost of the GRM1 Gene SCA13 NGS Test?
What should I do if my test result is positive or a VUS is found?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.