GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic Test
Short Name: GAARS NGS Genetic Test
Also known as: GAARS, Alacrima, Achalasia and Mental Retardation Syndrome
GMPPA Gene Alacrima, achalasia and mental retardation 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 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose Alacrima, Achalasia and Mental Retardation Syndrome (GAARS) by detecting mutations in the GMPPA gene using NGS technology.
- Test Code
- 5646
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart.
Method: Venipuncture
Laboratory Analysis
Standard blood draw procedure.
Report Delivery
Apply pressure to the puncture site to prevent bruising.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Alacrima, Achalasia and Mental Retardation Syndrome (GAARS) by detecting mutations in the GMPPA gene using NGS technology.
How to Prepare
- Use sterile equipment
- Label sample correctly
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Improper labeling
Understanding Your Results
Negative
No pathogenic variants detected. GAARS unlikely but clinical correlation advised.
Positive
Pathogenic variant(s) detected. Confirms diagnosis of GAARS.
Variant of Uncertain Significance
Further testing or family studies may be required.
If symptoms of alacrima, achalasia, or intellectual disability are present, or for genetic counseling after test results.
Limitations
- ⚠May not detect all types of mutations
- ⚠Variants of uncertain significance may be reported
- ⚠Does not rule out other genetic conditions
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare infection risk
- ●No significant risks associated with genetic testing itself
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
Frequently Asked Questions
What is GAARS?
What causes GAARS?
What are the symptoms of GAARS?
How is GAARS diagnosed?
What is the GMPPA gene test?
How is the test performed?
What sample is required for the test?
Is fasting required for the test?
How long does it take to get results?
What is the cost of the test?
Is home collection available?
What should I do if the test is positive?
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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.
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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.
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