LAMA1 Gene Poretti-Boltshauser syndrome NGS Genetic Test
Short Name: LAMA1 NGS Test
Also known as: Poretti-Boltshauser syndrome genetic test, LAMA1 gene sequencing, Cerebellar hypoplasia genetic test
LAMA1 Gene Poretti-Boltshauser syndrome 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 Reports are delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of Poretti-Boltshauser syndrome by identifying pathogenic mutations in the LAMA1 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with known mutations. Early genetic confirmation helps guide management and provides accurate recurrence risk counseling.
- Test Code
- 5917
- CPT Code
- 81407
- ICD Code
- Q04.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Poretti-Boltshauser syndrome by identifying pathogenic mutations in the LAMA1 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with known mutations. Early genetic confirmation helps guide management and provides accurate recurrence risk counseling.
How to Prepare
- For blood: Use EDTA tube, fill 2-3 ml.
- For FTA card: Apply one drop of blood on the designated circle.
- Label the sample with patient name and date of birth.
- Ensure the sample is sent to the lab within 24-48 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of Poretti-Boltshauser syndrome is crucial for appropriate developmental support and family counseling. This NGS test provides comprehensive analysis of the LAMA1 gene."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Positive (pathogenic variant)
Confirms diagnosis of Poretti-Boltshauser syndrome. Genetic counseling is recommended for family planning.
Negative (no variant)
No mutation found in LAMA1 gene. Consider other genetic causes if clinical suspicion remains high.
Variant of uncertain significance (VUS)
A variant was found but its clinical significance is unknown. Additional testing of family members may help clarify.
Consult a clinical geneticist or pediatric neurologist if your child shows developmental delay, ataxia, or hypotonia. Also, if you have a family history of Poretti-Boltshauser syndrome, genetic counseling is advised.
Limitations
- ⚠This test detects mutations in the LAMA1 gene only; other genes causing similar phenotypes are not analyzed.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Negative result does not rule out non-coding or regulatory region mutations.
Risks & Considerations
- ●Bruising or bleeding at the puncture site
- ●Infection (rare)
- ●Psychological impact of genetic results
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete coverage of certain gene regions due to technical limitations
Compare With Similar Tests
| Test | LAMA1 Gene Poretti-Boltshauser syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted LAMA1 Sanger Sequencing | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | LAMA1 Gene Poretti-Boltshauser syndrome NGS Genetic Test |
Frequently Asked Questions
What is Poretti-Boltshauser syndrome?
How is this test performed?
What is the cost of the test?
How long does it take to get results?
Is fasting required before the test?
What sample types are accepted?
Will I receive raw data files?
Can this test be done for children?
Is genetic counseling included?
What does a positive result mean?
Are there any risks associated with the test?
Is home sample collection available?
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.