ALG9 Gene Glycosylation disorder type 1L NGS Genetic Test
Short Name: ALG9 Gene Glycosylation Disorder 1L NGS Test
Also known as: Congenital Disorder of Glycosylation Type IL, CDG-IL, ALG9-CDG
ALG9 Gene Glycosylation disorder type 1L 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose ALG9 Gene Glycosylation Disorder Type 1L by identifying pathogenic mutations in the ALG9 gene using Next-Generation Sequencing technology, enabling accurate diagnosis and personalized management.
- Test Code
- 2047
- 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
No special preparation required. Provide complete clinical history and family pedigree if available. Genetic counseling session recommended prior to testing.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist using standard venipuncture techniques. For saliva or FTA card samples, follow kit instructions.
Report Delivery
Apply pressure to the puncture site for blood samples. Store samples as per instructions if not collected at home.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose ALG9 Gene Glycosylation Disorder Type 1L by identifying pathogenic mutations in the ALG9 gene using Next-Generation Sequencing technology, enabling accurate diagnosis and personalized management.
How to Prepare
- Ensure proper patient identification and labeling
- Use sterile collection tubes or FTA cards as specified
- Avoid contamination during sample handling
- Transport samples at ambient temperature unless otherwise advised
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for ALG9 gene disorders is crucial for early diagnosis and management. Referral from a gynecologist may be relevant in prenatal or family planning contexts."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or hemolyzed sample
- Incorrect container or labeling
- Sample degraded due to improper storage
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of ALG9 Gene Glycosylation Disorder Type 1L. Genetic counseling and specialist referral recommended for management.
Negative
No pathogenic variants detected. Clinical correlation may be needed; consider other diagnostic tests if symptoms persist.
Variant of Uncertain Significance
Variant detected but significance unclear. Further testing, family studies, or functional assays may be required.
If test results are positive or uncertain, consult a clinical geneticist or a specialist in metabolic disorders for further evaluation, management, and family planning advice.
Limitations
- ⚠May not detect large structural variants or deep intronic mutations
- ⚠Requires genetic counseling for interpretation
- ⚠May identify variants of uncertain significance that need further evaluation
Risks & Considerations
- ●Minimal risk from blood draw: bruising, slight pain, or infection at puncture site
- ●Emotional impact of test results; genetic counseling recommended
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
- ●Incorrect sample storage
Compare With Similar Tests
| Test | ALG9 Gene Glycosylation disorder type 1L NGS Genetic Test | Whole Exome Sequencing | Sanger Sequencing |
|---|---|---|---|
| Comparison | ALG9 Gene Glycosylation disorder type 1L NGS Genetic Test |
Frequently Asked Questions
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