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ALG2 Gene Glycosylation disorder type 1I NGS Genetic Test

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ALG2 Gene Glycosylation disorder type 1I NGS Genetic Test

Short Name: ALG2-CDG 1I NGS Test

Also known as: ALG2-CDG Type 1I Test, Congenital Disorder of Glycosylation Type 1I Genetic Test, CDG 1I Gene Sequencing Test, ALG2 Mutation Analysis NGS, ALG2-CDG Next Generation Sequencing

ALG2 Gene Glycosylation disorder type 1I NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatic Analysis, Variant Classification per ACMG Guidelines on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, or WhatsApp as per the patient's preference.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)UnisexAll Ages🏠 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

The primary purpose of the ALG2 Gene Glycosylation Disorder Type 1I NGS Genetic Test is to provide a definitive molecular diagnosis of Congenital Disorder of Glycosylation Type 1I by identifying pathogenic or likely pathogenic mutations in the ALG2 gene. This test is used for diagnostic confirmation in symptomatic individuals, carrier detection in family members, recurrence risk assessment for affected families, prenatal or preimplantation genetic diagnosis in at-risk pregnancies, and differentiation from other CDG subtypes and metabolic disorders with overlapping phenotypes.

Test Code
2046
CPT Code
81479
ICD Code
E77.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, or WhatsApp as per the patient's preference.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatic Analysis, Variant Classification per ACMG Guidelines
Step 1

Sample Collection

No specific preparation such as fasting is required. Provide complete clinical history and family pedigree information. A genetic counselling session is recommended prior to sample collection to discuss test implications, scope, and expected outcomes.

Method: Venipuncture / Finger prick (FTA Card)

Step 2

Laboratory Analysis

A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA vacutainer using standard venipuncture technique. Alternatively, a single drop of blood can be spotted on an FTA card. The process takes approximately 5-10 minutes and is minimally invasive.

Step 3

Report Delivery

Apply gentle pressure with sterile cotton at the venipuncture site for 3-5 minutes. The sample is transported under controlled ambient conditions to the laboratory. Results are typically available within 3 to 4 weeks and will be delivered via the chosen reporting method.

Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, or WhatsApp as per the patient's preference.

Patient Instructions

1
Before the Test:A pre-test genetic counselling session is recommended to understand the implications of testing, possible outcomes, and impact on family members. Provide detailed clinical history including onset of symptoms, developmental milestones, family pedigree chart of affected and unaffected members, and any prior metabolic or genetic test results. No fasting or special dietary preparation is required.
2
During the Test:The sample collection involves a simple venipuncture to draw 3-5 mL of blood into an EDTA tube, or alternatively a finger-prick blood drop onto an FTA card. The procedure takes approximately 5-10 minutes. The sample is then sent to the laboratory where DNA is extracted and subjected to Next-Generation Sequencing of the ALG2 gene.
3
After the Test:After sample collection, apply gentle pressure to the puncture site. The laboratory will perform DNA extraction, NGS library preparation, sequencing, bioinformatic analysis, and variant interpretation over a period of 3 to 4 weeks. Post-test genetic counselling is strongly recommended to review and explain the results, discuss implications for the patient and family members, and plan next steps including management and family planning options.

About This Test

Who Should Get This Test

The primary purpose of the ALG2 Gene Glycosylation Disorder Type 1I NGS Genetic Test is to provide a definitive molecular diagnosis of Congenital Disorder of Glycosylation Type 1I by identifying pathogenic or likely pathogenic mutations in the ALG2 gene. This test is used for diagnostic confirmation in symptomatic individuals, carrier detection in family members, recurrence risk assessment for affected families, prenatal or preimplantation genetic diagnosis in at-risk pregnancies, and differentiation from other CDG subtypes and metabolic disorders with overlapping phenotypes.

How to Prepare

  • Ensure informed consent is obtained from the patient or legal guardian before sample collection
  • Collect 3-5 mL of peripheral venous blood in a sterile EDTA (lavender top) vacutainer
  • Alternatively, use an FTA card for finger-prick blood collection, especially suitable for paediatric patients
  • Gently invert the EDTA tube 8-10 times immediately after collection to prevent clotting
  • Label the sample with patient name, date of birth, date of collection, and unique sample ID
  • Maintain sample at ambient room temperature during transport; do not freeze
  • Transport the sample to the laboratory within 48 hours of collection
  • Include completed test requisition form with clinical history and genetic counselling notes

Doctor's Notes

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

"ALG2-CDG type 1I is an extremely rare congenital disorder of glycosylation. Early molecular diagnosis through NGS-based gene sequencing is critical for guiding management, enabling genetic counselling, recurrence risk assessment, and informed family planning decisions. I recommend this test for any infant or child presenting with unexplained multisystem involvement including developmental delay, seizures, hypotonia, and coagulopathy suggestive of a glycosylation defect."

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 whole blood
ContainerEDTA (Lavender Top) Vacutainer or FTA Card
Collection MethodVenipuncture / Finger prick (FTA Card)

Sample Stability

EDTA whole blood: Stable for up to 72 hours at ambient temperature (15-25°C)
Extracted DNA: Stable for up to 6 months at -20°C
FTA Card: Stable for several months at room temperature when stored in a sealed bag with desiccant
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Sample collected in incorrect anticoagulant (e.g., heparin, citrate tubes)
  • Insufficient sample volume (less than 2 mL)
  • Unlabelled or mislabelled samples
  • Sample received more than 72 hours post-collection without proper storage documentation
  • Contaminated or leaking sample container

Understanding Your Results

The ALG2 Gene Glycosylation Disorder Type 1I NGS Genetic Test report provides detailed information on any genetic variants identified in the ALG2 gene. Each variant is classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Results should always be interpreted by a qualified clinical geneticist or genetic counsellor in the context of the patient's clinical presentation and family history.
📊

No disease-causing mutations were identified in the ALG2 gene. This result reduces but does not completely eliminate the possibility of ALG2-CDG. Clinical correlation and consideration of alternative diagnoses are recommended.

Does not confirm diagnosis of ALG2-CDG

📊

Two pathogenic or likely pathogenic mutations were identified in the ALG2 gene in a compound heterozygous or homozygous state, consistent with a diagnosis of Congenital Disorder of Glycosylation Type 1I. This confirms the molecular basis of the patient's condition.

Confirms diagnosis of ALG2-CDG Type 1I; autosomal recessive inheritance confirmed

📊

Only one disease-causing mutation was identified. The patient is a confirmed carrier. If clinical suspicion is high, additional testing such as deletion/duplication analysis or sequencing of other CDG genes may be warranted.

Carrier status confirmed; further investigation may be needed

📊

A genetic variant was identified whose clinical significance is currently unknown. This variant alone is insufficient to confirm or rule out ALG2-CDG. Familial segregation analysis, functional studies, and clinical correlation are recommended.

Insufficient for diagnosis; requires further evaluation

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or your treating physician if: your child exhibits unexplained developmental delay, seizures, hypotonia, or multisystem abnormalities; you have a family history of congenital disorders of glycosylation; you receive a positive, VUS, or inconclusive test result and require interpretation and genetic counselling; you are planning a pregnancy and are a known carrier of an ALG2 mutation; or if you need guidance regarding prenatal or preimplantation genetic testing options.

Limitations

  • ⚠This test detects sequence-level variants in the ALG2 gene only; it does not screen for mutations in other CDG-associated genes unless specifically ordered as a gene panel
  • ⚠Deep intronic mutations, regulatory region variants, and large structural rearrangements may not be fully detected by standard NGS coding region analysis
  • ⚠Variants of uncertain significance (VUS) may be identified, requiring further familial segregation analysis or functional studies
  • ⚠Mosaicism at very low levels (below 5-10% allele frequency) may not be reliably detected
  • ⚠This test does not assess epigenetic modifications or post-translational glycosylation enzyme activity
  • ⚠A negative result does not entirely exclude a glycosylation disorder, as other genes can cause similar phenotypes

Risks & Considerations

  • ●Minimal risk associated with blood collection: slight bruising or discomfort at the venipuncture site
  • ●Emotional or psychological impact of genetic test results on the patient and family members
  • ●Possibility of identifying incidental findings or variants of uncertain significance requiring further evaluation
  • ●Potential insurance, employment, or social implications of genetic test results (discuss with genetic counsellor)

Interfering Factors

  • ●Degraded or insufficient DNA quality from the blood sample
  • ●Recent blood transfusion within the past 4 weeks may affect DNA analysis
  • ●Haematological malignancies with somatic mutations affecting germline DNA interpretation
  • ●Sample contamination during collection or transport
  • ●Use of anticoagulants other than EDTA may impact DNA extraction yield

Compare With Similar Tests

TestALG2 Gene Glycosylation disorder type 1I NGS Genetic TestCDG Gene Panel (Comprehensive)Whole Exome Sequencing (WES)Transferrin Isoelectric Focusing (TIEF)Chromosomal Microarray (CMA)
ComparisonALG2 Gene Glycosylation disorder type 1I NGS Genetic Test

Frequently Asked Questions

What is ALG2 Gene Glycosylation Disorder Type 1I?
ALG2 Gene Glycosylation Disorder Type 1I, also known as ALG2-CDG or Congenital Disorder of Glycosylation Type 1I, is a rare autosomal recessive genetic disorder caused by mutations in the ALG2 gene. This gene encodes an enzyme involved in the early steps of N-linked glycosylation, a process essential for proper protein function. Affected individuals may experience developmental delay, intellectual disability, seizures, abnormal muscle tone, liver dysfunction, and coagulation abnormalities.
What does the NGS Genetic Test for ALG2-CDG involve?
The test uses Next-Generation Sequencing (NGS) technology to read and analyse the entire coding region of the ALG2 gene from a blood sample. It identifies mutations including point variants, small insertions, deletions, and other sequence-level changes. Each variant is classified according to ACMG guidelines as pathogenic, likely pathogenic, VUS, likely benign, or benign.
Who should get the ALG2 Gene Glycosylation Disorder Type 1I test?
This test is recommended for individuals—particularly infants and children—who present with unexplained developmental delay, intellectual disability, seizures, hypotonia, abnormal eye movements, liver dysfunction, or coagulation abnormalities suggestive of a congenital disorder of glycosylation. It is also recommended for carrier testing in family members and for prenatal planning in families with a known ALG2 mutation.
What sample is required for this test?
The test requires either 3-5 mL of peripheral venous blood collected in an EDTA (lavender top) vacutainer, extracted DNA from a previous sample, or a single drop of blood on an FTA card. No fasting is required before sample collection.
How long does it take to receive the results?
Results are typically available within 3 to 4 weeks from the date the sample is received at the laboratory. This timeframe includes DNA extraction, NGS library preparation, sequencing, bioinformatic analysis, variant interpretation, and report generation. Reports are delivered via online portal, email, or WhatsApp.
What is the cost of the ALG2 Gene Glycosylation Disorder Type 1I NGS Genetic Test?
The cost of the ALG2 Gene Glycosylation Disorder Type 1I NGS Genetic Test at DNA Labs India is Rs 20000.0. This price includes DNA extraction, NGS sequencing, bioinformatic analysis, variant interpretation, genetic counselling report, and free home sample collection across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the ALG2 Gene Glycosylation Disorder Type 1I NGS Genetic Test. You can book online and a trained phlebotomist will visit your home to collect the blood sample. This service is available across major cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more.
Is there a cure for ALG2-CDG Type 1I?
Currently, there is no cure for ALG2-CDG Type 1I. Treatment focuses on managing symptoms and providing supportive care, which may include physical therapy, speech therapy, occupational therapy, seizure management, nutritional support, and regular monitoring for organ involvement. Early diagnosis through genetic testing allows for timely intervention and improved quality of life.
How is ALG2-CDG Type 1I inherited?
ALG2-CDG Type 1I follows an autosomal recessive inheritance pattern. This means the affected individual inherits one mutated copy of the ALG2 gene from each parent, both of whom are typically unaffected carriers. For carrier parents, there is a 25% chance with each pregnancy that the child will be affected, a 50% chance the child will be a carrier, and a 25% chance the child will be unaffected and not a carrier.
What does a negative test result mean?
A negative result means no pathogenic or likely pathogenic variants were identified in the ALG2 gene. This reduces the likelihood of ALG2-CDG but does not completely exclude it, as some deep intronic or regulatory variants may not be detected by standard NGS. If clinical suspicion remains high, additional testing such as a CDG gene panel or whole exome sequencing may be recommended by your geneticist.
Can this test be used for prenatal diagnosis?
Yes, if the specific ALG2 mutations in the family have been previously identified through this NGS test, prenatal diagnosis or preimplantation genetic testing (PGT) can be offered for subsequent pregnancies. This requires coordination with a clinical geneticist and an obstetrician experienced in prenatal genetic diagnosis.
Do I need a doctor's prescription or referral for this test?
While a doctor's referral is not strictly mandatory, it is strongly recommended. A clinical geneticist or treating physician can help determine the clinical appropriateness of the test, guide pre-test genetic counselling, provide necessary clinical history, and assist with proper interpretation and management based on the results.
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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