DDOST Gene Glycosylation disorder type IR NGS Genetic Test
Short Name: DDOST CDG-IR NGS Test
Also known as: Congenital Disorder of Glycosylation Type IR, CDG-IR, DDOST-CDG, CDG Syndrome Type IR, DDOST Protein Glycosylation Disorder
DDOST Gene Glycosylation disorder type IR NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing 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. In complex cases requiring additional confirmatory sequencing or variant interpretation, results may take slightly longer. You will be notified once the report is ready.. 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
The purpose of the DDOST Gene Glycosylation Disorder Type IR NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the DDOST gene that cause Congenital Disorder of Glycosylation Type IR. This test aids in confirming a clinical diagnosis, differentiating CDG-IR from other congenital disorders of glycosylation and neurological conditions, guiding clinical management decisions, enabling carrier detection for informed family planning, and facilitating comprehensive genetic counseling for affected individuals and their families.
- Test Code
- 2070
- 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. In complex cases requiring additional confirmatory sequencing or variant interpretation, results may take slightly longer. You will be notified once the report is ready.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing
Sample Collection
No special preparation or fasting is required. Bring the doctor's prescription, valid photo identification, and any previous genetic test reports or family pedigree information. A pre-test genetic counseling session is strongly recommended to draw a pedigree chart of family members affected with glycosylation disorder type IR.
Method: Venipuncture or FTA Card Blood Spot
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of blood via venipuncture from a vein in your arm. Alternatively, a single drop of blood can be collected on an FTA card. The entire collection procedure takes approximately 5-10 minutes and is virtually painless.
Report Delivery
Apply gentle pressure to the puncture site with a sterile cotton ball for 1-2 minutes. You may resume normal activities immediately. Results will be available within 3-4 weeks through the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. In complex cases requiring additional confirmatory sequencing or variant interpretation, results may take slightly longer. You will be notified once the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the DDOST Gene Glycosylation Disorder Type IR NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the DDOST gene that cause Congenital Disorder of Glycosylation Type IR. This test aids in confirming a clinical diagnosis, differentiating CDG-IR from other congenital disorders of glycosylation and neurological conditions, guiding clinical management decisions, enabling carrier detection for informed family planning, and facilitating comprehensive genetic counseling for affected individuals and their families.
How to Prepare
- No fasting is required before sample collection
- Carry a valid photo ID and doctor's prescription
- Wear loose-fitting sleeves for easy venipuncture access
- Inform the phlebotomist about any bleeding disorders, anticoagulant medications, or recent blood transfusions
- Attend the pre-test genetic counseling session if scheduled
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"DDOST Gene Glycosylation Disorder Type IR is an extremely rare condition that may initially present with nonspecific symptoms such as developmental delay, unexplained seizures, or failure to thrive in early childhood. As an internal medicine physician, I often encounter patients or families who have undergone extensive evaluations without a definitive diagnosis. When multisystem involvement is present—particularly neurological impairment combined with skeletal or facial abnormalities and biochemical markers suggestive of glycosylation defects—I recommend referral for NGS-based genetic testing of the DDOST gene. Early molecular confirmation through this test can guide appropriate multidisciplinary management, prevent unnecessary investigations, and enable informed family planning through genetic counseling. If a pathogenic variant is identified, coordinated care involving clinical genetics, neurology, and metabolic specialists is essential for optimal patient outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume (less than 2 mL whole blood)
- Incorrectly labeled or unlabeled sample
- Sample received beyond the stability period
- Sample contaminated or collected in an inappropriate container
Understanding Your Results
Pathogenic Variant Detected
Confirms a molecular diagnosis of DDOST-CDG (CDG-IR) in a symptomatic individual. Genetic counseling, family screening, and coordinated multidisciplinary management are recommended.
Likely Pathogenic Variant Detected
Strong evidence supporting disease association. Clinical correlation with the patient's phenotype and family segregation studies are recommended for confirmation.
Variant of Uncertain Significance (VUS)
A variant was detected but current evidence is insufficient to classify it as pathogenic or benign. Clinical correlation, parental testing, and periodic variant reanalysis are recommended.
Likely Benign Variant
The variant is unlikely to be associated with DDOST-CDG. No clinical significance is expected for this finding.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the DDOST gene. This result does not completely exclude CDG-IR if clinical suspicion remains high; other genetic or metabolic etiologies should be considered.
Carrier Status (Heterozygous)
A single pathogenic variant was detected. The individual is a carrier of DDOST-CDG and typically does not manifest symptoms. Carrier testing for the reproductive partner and genetic counseling are recommended.
Consult a clinical geneticist or your referring physician if your test results reveal any pathogenic or likely pathogenic variant in the DDOST gene, a variant of uncertain significance, or if you have a family history of congenital disorders of glycosylation. Early consultation is also recommended if your child presents with unexplained developmental delay, seizures, facial dysmorphism, or multisystem abnormalities. Genetic counseling should be sought before and after testing to guide family planning and clinical management decisions.
Limitations
- ⚠May not detect large structural rearrangements, copy number variations, or deep intronic variants
- ⚠Variants of uncertain significance (VUS) may be identified and may require periodic reclassification
- ⚠Does not detect mitochondrial DNA variants or epigenetic modifications
- ⚠Results should always be interpreted in conjunction with clinical findings and family history
- ⚠A negative result does not completely exclude DDOST-CDG if clinical suspicion remains high
Risks & Considerations
- ●Minimal risk from blood draw, including slight bruising or soreness at the needle insertion site
- ●Very rare risk of infection at the puncture site
- ●Potential psychological impact of receiving genetic test results, including anxiety or distress
- ●Risk of incidental findings or variants of uncertain significance that may cause emotional concern
- ●Genetic counseling before and after testing is recommended to mitigate emotional and psychological risks
Interfering Factors
- ●Highly degraded DNA samples may affect sequencing quality and results
- ●Recent blood transfusion (within 3 months) may interfere with DNA analysis
- ●Contaminated or improperly stored samples may yield inconclusive results
- ●Low-quality DNA extraction may reduce sequencing depth and coverage
Compare With Similar Tests
| Test | DDOST Gene Glycosylation disorder type IR NGS Genetic Test | DDOST Gene Sanger Sequencing | Congenital Disorder of Glycosylation Gene Panel | Whole Exome Sequencing (WES) | Transferrin Isoelectric Focusing (TIEF) |
|---|---|---|---|---|---|
| Comparison | DDOST Gene Glycosylation disorder type IR NGS Genetic Test |
Frequently Asked Questions
What is DDOST Gene Glycosylation Disorder Type IR?
What causes DDOST Gene Glycosylation Disorder Type IR?
What are the common symptoms of DDOST Gene Glycosylation Disorder Type IR?
How is DDOST Gene Glycosylation Disorder Type IR diagnosed?
What is the NGS Genetic Test for DDOST Gene Glycosylation Disorder Type IR?
What sample is required for the DDOST Gene NGS Genetic Test?
What is the cost of the DDOST Gene Glycosylation Disorder Type IR NGS Genetic Test in India?
How long does it take to get the results of the DDOST Gene NGS Genetic Test?
Is home sample collection available for this genetic test?
What does a positive DDOST Gene mutation result mean?
Is genetic counseling recommended before taking this test?
Can this test be performed on prenatal samples or for carrier testing?
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