SRD5A3 Gene Congenital disorder of glycosylation, type Iq NGS Genetic Test
Short Name: SRD5A3 CDG Type Iq NGS Test
Also known as: CDG-Iq Genetic Test, SRD5A3 Mutation Analysis, SRD5A3 Gene Sequencing, Congenital Disorder of Glycosylation Type Iq NGS Test, SRD5A3 Polyprenol Reductase Deficiency Test
SRD5A3 Gene Congenital disorder of glycosylation, type Iq NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatics Pipeline Analysis 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.. 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 SRD5A3 Gene CDG Type Iq NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the SRD5A3 gene that cause congenital disorder of glycosylation type Iq. This test is used for definitive molecular diagnosis in symptomatic individuals, carrier detection in at-risk family members, and informed genetic counseling for families regarding recurrence risk and reproductive options.
- Test Code
- 1951
- 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.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatics Pipeline Analysis
Sample Collection
No fasting is required. Provide complete clinical history and family pedigree information. Genetic counseling session is recommended before sample collection to discuss the implications of testing and potential outcomes.
Method: Venipuncture / FTA Card finger-prick
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA vacutainer, or a finger-prick blood sample onto an FTA card. The procedure typically takes less than 10 minutes.
Report Delivery
The sample is labeled, stored at ambient room temperature, and transported to the DNA Labs India testing facility under controlled conditions. Results are typically available within 3 to 4 weeks.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SRD5A3 Gene CDG Type Iq NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the SRD5A3 gene that cause congenital disorder of glycosylation type Iq. This test is used for definitive molecular diagnosis in symptomatic individuals, carrier detection in at-risk family members, and informed genetic counseling for families regarding recurrence risk and reproductive options.
How to Prepare
- No fasting required prior to sample collection
- Provide complete clinical history and a detailed family pedigree chart during genetic counseling
- For infants, a heel-prick blood collection on FTA card may be used
- Ensure the sample is properly labeled with patient details
- Avoid sample contamination during collection and handling
- Store and transport the sample at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"SRD5A3-related CDG Type Iq is a rare autosomal recessive condition that may present with multisystem involvement in infancy. Early genetic confirmation through NGS allows families to understand recurrence risk, access appropriate supportive care, and make informed reproductive decisions. I recommend this test for any infant or child with unexplained developmental delay, hypotonia, visual abnormalities, and suspected glycosylation defect."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received in a leaking or damaged container
- Insufficient sample volume for DNA extraction
- Sample contaminated or hemolyzed beyond acceptable limits
- Mismatched or missing patient identification details
- Sample collected in heparin anticoagulant (inhibits PCR/NGS reactions)
Understanding Your Results
Pathogenic Variant Detected (Homozygous or Compound Heterozygous)
Confirms the diagnosis of SRD5A3-related CDG Type Iq. Genetic counseling and multidisciplinary management are recommended.
Likely Pathogenic Variant Detected
Strongly suggestive of CDG-Iq. Correlation with clinical features and biochemical testing is advised. Family studies may help confirm pathogenicity.
Variant of Uncertain Significance (VUS)
A variant was identified but current evidence is insufficient to determine its disease-causing potential. Additional family segregation studies and functional analysis may be needed.
Likely Benign / Benign Variant Detected
The detected variant is not considered disease-causing. Clinical correlation is recommended if symptoms persist.
No Pathogenic Variants Detected
No mutations in the SRD5A3 gene were identified. CDG-Iq due to SRD5A3 mutations is unlikely, though other CDG subtypes or genetic conditions should be considered.
Consult your physician or genetic counselor if the test detects any pathogenic or likely pathogenic variant, if a variant of uncertain significance is identified, or if clinical symptoms persist despite a negative result. Families with a confirmed diagnosis should seek genetic counseling regarding recurrence risk and reproductive planning.
Limitations
- ⚠This test does not detect mutations in genes other than SRD5A3
- ⚠Deep intronic variants and regulatory region mutations outside the sequenced regions may not be detected
- ⚠Variants of uncertain significance (VUS) may require additional family studies for reclassification
- ⚠This test does not replace biochemical confirmation such as transferrin isoelectric focusing
- ⚠Mosaicism at very low levels may not be reliably detected
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Extremely rare risk of infection at the collection site
- ●Psychological impact of genetic test results; pre- and post-test genetic counseling is recommended
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing coverage and accuracy
- ●Recent blood transfusion within the past 4 weeks may lead to mixed DNA profiles
- ●Contamination of the sample during collection or transport
- ●Presence of homologous pseudogene regions may complicate variant interpretation
Compare With Similar Tests
| Test | SRD5A3 Gene Congenital disorder of glycosylation, type Iq NGS Genetic Test | Transferrin Isoelectric Focusing (TIEF) | Whole Exome Sequencing (WES) | CDG Gene Panel (Multi-gene NGS) |
|---|---|---|---|---|
| Comparison | SRD5A3 Gene Congenital disorder of glycosylation, type Iq NGS Genetic Test |
Frequently Asked Questions
What is SRD5A3 Gene Congenital Disorder of Glycosylation, Type Iq?
What are the common symptoms of CDG Type Iq?
How is CDG Type Iq diagnosed?
What sample is required for the SRD5A3 NGS Genetic Test?
How much does the SRD5A3 Gene CDG Type Iq NGS Genetic Test cost?
How long does it take to get the test results?
Is home sample collection available for this test?
Is the SRD5A3 Gene CDG Type Iq NGS Genetic Test covered by insurance?
Can this test be performed on children and infants?
What should I do if the test result is positive?
Does DNA Labs India provide raw genetic data along with the clinical report?
Is genetic counseling recommended before and after this test?
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