AASS Gene Saccharopinuria NGS Genetic Test
Short Name: AASS Gene Saccharopinuria Test
Also known as: Saccharopinuria Genetic Test, AASS Gene Mutation Analysis, Alpha-Aminoadipic Semialdehyde Synthase Gene Test, Lysine Metabolism Genetic Test
AASS Gene Saccharopinuria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Once the analysis is complete, the report will be securely shared through the online patient portal, via email, and optionally via WhatsApp. In cases where additional familial segregation analysis or variant reclassification is needed, results may take longer. Patients will be notified upon report availability.. 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 AASS Gene Saccharopinuria NGS Genetic Test is to detect pathogenic mutations in the AASS gene responsible for the enzymatic breakdown of lysine. This test enables definitive molecular diagnosis of saccharopinuria, guides clinical management, supports carrier identification in at-risk families, aids in genetic counseling and family planning, and helps differentiate saccharopinuria from other inherited metabolic disorders with overlapping symptoms.
- Test Code
- 2253
- CPT Code
- 81479
- ICD Code
- E72.3
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Once the analysis is complete, the report will be securely shared through the online patient portal, via email, and optionally via WhatsApp. In cases where additional familial segregation analysis or variant reclassification is needed, results may take longer. Patients will be notified upon report availability.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A pre-test genetic counseling session is strongly recommended to discuss the clinical indications, inheritance pattern, implications of possible results, and to draw a detailed pedigree chart of family members affected with saccharopinuria or related metabolic disorders. No fasting is required. Ensure the patient's clinical history, including developmental milestones, seizure history, family history of consanguinity, and prior metabolic workups, is documented and available at the time of sample collection.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3 to 5 mL of venous blood via standard venipuncture technique into an EDTA (lavender top) vacutainer tube. The tube should be gently inverted 8 to 10 times immediately after collection to ensure proper mixing with the anticoagulant. The sample should be clearly labeled with the patient's full name, date of birth, unique identification number, and date and time of collection. Strict adherence to sample labeling and chain-of-custody protocols is essential.
Report Delivery
The blood sample should be stored at ambient room temperature (15–30°C) and transported to the laboratory within 24 to 48 hours of collection. Avoid freezing the sample. Once received at the laboratory, DNA will be extracted from the blood sample, and NGS library preparation and sequencing will be performed. Results are typically available within 3 to 4 weeks. Post-test genetic counseling is recommended to interpret findings and discuss next steps for clinical management or family planning.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Once the analysis is complete, the report will be securely shared through the online patient portal, via email, and optionally via WhatsApp. In cases where additional familial segregation analysis or variant reclassification is needed, results may take longer. Patients will be notified upon report availability.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the AASS Gene Saccharopinuria NGS Genetic Test is to detect pathogenic mutations in the AASS gene responsible for the enzymatic breakdown of lysine. This test enables definitive molecular diagnosis of saccharopinuria, guides clinical management, supports carrier identification in at-risk families, aids in genetic counseling and family planning, and helps differentiate saccharopinuria from other inherited metabolic disorders with overlapping symptoms.
How to Prepare
- Collect 3 to 5 mL of venous blood in an EDTA (lavender top) vacutainer tube
- Gently invert the EDTA tube 8 to 10 times immediately after collection; do not shake
- Label the sample with the patient's full name, date of birth, unique ID, and date/time of collection
- Store the sample at ambient room temperature (15–30°C); do not freeze or refrigerate
- Transport to the laboratory within 24 to 48 hours of collection
- Ensure the test requisition form includes complete clinical history, indication for testing, and relevant family history
- Do not collect from an arm with an active IV line or from the same arm used for blood transfusion within the past 30 days
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"From an obstetric and prenatal genetics perspective, identifying AASS gene mutations in families with a history of saccharopinuria or consanguinity is crucial for informed reproductive decision-making. Prenatal and preconception carrier testing enables at-risk couples to understand the probability of having an affected child. Early diagnosis through NGS allows for timely initiation of metabolic management and supportive therapies. I strongly recommend genetic counseling for all families presenting with consanguinity, a history of metabolic disorders, or unexplained neurodevelopmental delays in prior pregnancies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted sample or improperly anticoagulated specimen
- Insufficient sample volume (less than 2 mL)
- Sample collected in incorrect tube type (non-EDTA)
- Sample received more than 7 days after collection without proper refrigeration
- Unlabeled, mislabeled, or incompletely labeled specimen
- Sample collected from a patient who received a blood transfusion within the past 30 days without disclosure
Understanding Your Results
No disease-causing mutations were identified in the AASS gene. This result reduces but does not entirely eliminate the possibility of saccharopinuria, as certain types of variants (e.g., deep intronic, regulatory, or large structural changes) may not be detected by this test. Clinical correlation and consideration of additional or alternative genetic testing is recommended if clinical suspicion remains high.
Suggestive of no AASS-related saccharopinuria; consider differential diagnoses
Two identical copies of a pathogenic variant were identified in the AASS gene. This is consistent with a confirmed molecular diagnosis of saccharopinuria in an autosomal recessive inheritance pattern. Both parents are expected to be carriers.
Confirms diagnosis of saccharopinuria; genetic counseling and family screening recommended
Two different pathogenic or likely pathogenic variants were identified on separate alleles of the AASS gene. This is consistent with a confirmed molecular diagnosis of saccharopinuria. Each parent is expected to carry one of the two variants.
Confirms diagnosis of saccharopinuria; genetic counseling and targeted carrier testing for family members recommended
A single pathogenic or likely pathogenic variant was identified in the AASS gene. This result indicates carrier status for saccharopinuria. The individual is typically asymptomatic but carries one mutated copy of the gene. If both parents are carriers, there is a 25% chance of having an affected child.
Carrier status; genetic counseling and partner testing recommended for family planning
A genetic variant in the AASS gene was identified, but current evidence is insufficient to classify it as pathogenic or benign. Further familial segregation analysis, functional studies, or periodic reclassification may be required. This result alone cannot confirm or exclude a diagnosis of saccharopinuria.
Indeterminate; clinical correlation and follow-up reanalysis recommended
Consult your geneticist or referring physician if the test results indicate the presence of a pathogenic variant in the AASS gene, a Variant of Uncertain Significance (VUS), or if the test result is negative but clinical symptoms persist. Immediate consultation is advised if the affected individual experiences new or worsening symptoms such as seizures, regression in developmental milestones, or metabolic crises. Families planning a pregnancy should consult a genetic counselor to understand recurrence risks and reproductive options, including prenatal or preimplantation genetic testing.
Limitations
- ⚠This test is limited to coding regions and flanking intronic sequences of the AASS gene; deep intronic, regulatory, or promoter region mutations may not be detected
- ⚠Large structural rearrangements, chromosomal abnormalities, and trisomies may not be fully captured by targeted NGS
- ⚠Variants of Uncertain Significance (VUS) may be identified and may require further familial segregation analysis for definitive classification
- ⚠This test does not rule out mutations in other genes that may cause phenotypically similar metabolic or neurodevelopmental disorders
- ⚠Mosaicism at low allele frequencies below the analytical sensitivity threshold may not be detected
- ⚠This test is not validated for prenatal diagnostic use on chorionic villus or amniotic fluid samples without prior validation
Risks & Considerations
- ●Minimal risk associated with standard blood draw via venipuncture
- ●Mild pain, bruising, or swelling at the needle insertion site (resolves within 1–2 days)
- ●Rare risk of infection at the puncture site
- ●Extremely rare risk of fainting or dizziness during or after blood collection
- ●Psychological or emotional impact related to genetic test results; genetic counseling is recommended to address these concerns
- ●Potential for identification of variants of uncertain significance (VUS) which may cause anxiety; post-test counseling is advised
Interfering Factors
- ●Recent blood transfusion (within the past 30 days) may result in donor DNA contamination, potentially affecting variant detection accuracy
- ●Bone marrow transplant recipients may have donor-derived DNA in peripheral blood, leading to inconclusive results
- ●Degraded or insufficient DNA quality due to improper sample handling, storage, or prolonged transport times
Compare With Similar Tests
| Test | AASS Gene Saccharopinuria NGS Genetic Test | Whole Exome Sequencing (WES) | Sanger Sequencing of AASS Gene | Inherited Metabolic Disorder Gene Panel | Plasma Amino Acid Analysis | Lysine Quantitative - Plasma |
|---|---|---|---|---|---|---|
| Comparison | AASS Gene Saccharopinuria NGS Genetic Test |
Frequently Asked Questions
What is the AASS Gene Saccharopinuria NGS Genetic Test?
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Is saccharopinuria treatable?
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