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ALG1 Gene Glycosylation disorder type 1K NGS Genetic Test

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ALG1 Gene Glycosylation disorder type 1K NGS Genetic Test

Short Name: ALG1-CDG Type 1K NGS Test

Also known as: ALG1-CDG Type 1K, Congenital Disorder of Glycosylation Type 1K

ALG1 Gene Glycosylation disorder type 1K 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.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose ALG1 gene glycosylation disorder type 1K through genetic analysis using NGS technology.

Test Code
2042
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)
Step 1

Sample Collection

Genetic counseling recommended to understand test implications.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Standard blood collection via venipuncture or FTA card procedure.

Step 3

Report Delivery

Sample processed for DNA extraction and sequencing in the laboratory.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Understand the test purpose, implications, and limitations through genetic counseling.
2
During the Test:Blood sample or DNA extracted from provided sample is sequenced using NGS technology to analyze the ALG1 gene.
3
After the Test:Results are reviewed by a clinical geneticist and reported with recommendations for management and follow-up.

About This Test

Who Should Get This Test

To diagnose ALG1 gene glycosylation disorder type 1K through genetic analysis using NGS technology.

How to Prepare

  • Use aseptic technique for blood draw
  • Label samples correctly with patient details
  • Transport at ambient temperature as per guidelines

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for ALG1 disorder is crucial for early diagnosis and management. Patients should seek genetic counseling to understand implications for family planning and treatment."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood: 7 days at 2-8°C
FTA card: Stable at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling or documentation

Understanding Your Results

Interpretation of genetic test results for ALG1 disorder requires expert analysis by a geneticist.
Positive: Pathogenic variant detected – confirms diagnosis of ALG1 glycosylation disorder type 1K
Negative: No pathogenic variant – but clinical suspicion may require further testing or monitoring
Variant of uncertain significance: Requires additional evaluation and genetic counseling
⚠️ When to Consult a Doctor:

If symptoms such as developmental delays, seizures, or family history of glycosylation disorders are present, consult a geneticist or pediatrician promptly.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require genetic counseling interpretation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of test results, requiring genetic counseling support

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Compare With Similar Tests

TestALG1 Gene Glycosylation disorder type 1K NGS Genetic TestWhole Exome SequencingSanger Sequencing
ComparisonALG1 Gene Glycosylation disorder type 1K NGS Genetic TestMore comprehensive but higher cost, may identify broader genetic causesTargeted and less expensive but lower throughput, suitable for single gene analysis

Frequently Asked Questions

What is ALG1 Gene Glycosylation Disorder Type 1K?
It is a rare genetic disorder caused by mutations in the ALG1 gene, affecting glycoprotein synthesis and leading to various developmental and health issues.
What are the symptoms of ALG1 Gene Glycosylation Disorder Type 1K?
Symptoms include developmental delays, intellectual disability, seizures, abnormal muscle tone, and structural abnormalities in the brain, liver, and heart.
How is ALG1 Gene Glycosylation Disorder Type 1K diagnosed?
Diagnosis involves clinical evaluation, brain imaging, blood tests, and genetic testing such as NGS to identify mutations in the ALG1 gene.
What is NGS Genetic Testing?
NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously, used here to detect ALG1 gene mutations.
What is the cost of the ALG1 Gene NGS Genetic Test in India?
The cost is INR 20,000 at DNA Labs India, with possible variations based on location and additional services.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across many cities in India for online bookings.
How long does it take to get results from the ALG1 Gene NGS Genetic Test?
Results are typically delivered within 3 to 4 weeks after sample collection.
Is the ALG1 Gene NGS Genetic Test covered by insurance in India?
Insurance coverage may vary; it is recommended to check with your insurance provider as this test may not be universally covered.
What should I do if the test results are positive?
If positive, consult a geneticist or healthcare provider for further management, treatment options, and genetic counseling for family planning.
Can ALG1 Gene Glycosylation Disorder Type 1K be treated?
There is no cure, but management focuses on symptom relief, supportive therapies, and early intervention to improve quality of life.
Is genetic counseling necessary before or after the test?
Yes, genetic counseling is strongly recommended to understand the test implications, interpret results, and discuss family risks.
Where can I get the ALG1 Gene NGS Genetic Test done?
DNA Labs India offers this test with services in numerous cities; visit our website or contact us for details and booking.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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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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