Nx Gen Sequencing: Alexander Disease Test
Short Name: Alexander Disease Genetic Test
Also known as: GFAP Gene Sequencing, Alexander Disease Genetic Screening, Nx Gen Test for Alexander Disease
Nx Gen Sequencing: Alexander Disease Test test available at DNA Labs India for ₹23,400. Uses Next Generation Sequencing (NGS), Sanger Sequencing on Whole Blood samples. Results in 40 Working Days. 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 Nx Gen Sequencing: Alexander Disease Test is to detect mutations in the GFAP gene, confirming a diagnosis of Alexander Disease and distinguishing its type (infantile, juvenile, or adult). It aids in differential diagnosis from other leukodystrophies or neurological conditions, informs prognosis, and supports genetic counseling for affected families. By identifying specific mutations, this test facilitates personalized medical management and research opportunities.
- Test Code
- 1325
- Price
- ₹23,400
- Sample Type
- Whole Blood
- Result Time
- 40 Working Days
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing
Sample Collection
Ensure the Genetic Testing Consent Form (Form 37) is duly filled and signed. No fasting is required. Inform the healthcare provider about any medications or recent transfusions.
Method: Venipuncture
Laboratory Analysis
A phlebotomist will collect 10 mL of whole blood via venipuncture into two lavender-top EDTA tubes. The process is similar to a standard blood draw and takes a few minutes.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Samples are shipped refrigerated (not frozen) to the lab for analysis. Keep the area clean and avoid strenuous activity with the arm for a few hours.
Timeline: 40 Working Days
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Nx Gen Sequencing: Alexander Disease Test is to detect mutations in the GFAP gene, confirming a diagnosis of Alexander Disease and distinguishing its type (infantile, juvenile, or adult). It aids in differential diagnosis from other leukodystrophies or neurological conditions, informs prognosis, and supports genetic counseling for affected families. By identifying specific mutations, this test facilitates personalized medical management and research opportunities.
How to Prepare
- Obtain and complete the Genetic Testing Consent Form (Form 37)
- Collect 10 mL (5 mL minimum) whole blood in 2 Lavender Top (EDTA) tubes
- Label tubes with patient details and date
- Ship refrigerated; do not freeze
- Ensure sample reaches lab within 72 hours if refrigerated
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of Alexander Disease is crucial for timely management and family counseling. Nx Gen Sequencing provides reliable detection of GFAP mutations, aiding in personalized care plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume (<5 mL)
- Hemolyzed or clotted samples
- Missing or invalid consent form
- Improper storage (frozen samples)
- Incorrect tube type
Understanding Your Results
Pathogenic/Likely Pathogenic Variant Detected
Confirms diagnosis of Alexander Disease; subtype may be inferred based on variant type. Clinical correlation with symptoms and imaging is advised.
Variant of Uncertain Significance (VUS)
Genetic change identified but clinical significance unknown; may require further testing or family studies. Not diagnostic alone.
No Pathogenic Variant Detected
Alexander Disease due to GFAP mutations is unlikely, but does not exclude other genetic or non-genetic causes. Consider alternative diagnoses.
Consult a neurologist or genetic specialist if symptoms such as seizures, developmental delays, or macrocephaly are present, especially in infants. Post-test, seek genetic counseling to discuss results, family implications, and management options.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Cannot rule out other genetic or non-genetic causes of similar symptoms
- ⚠Requires genetic counseling for interpretation
- ⚠Results are dependent on current knowledge of GFAP gene variants
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection
- ●Potential psychological impact of results
Interfering Factors
- ●Sample contamination
- ●DNA degradation due to improper storage
- ●Hemolyzed or clotted blood samples
- ●Recent blood transfusions
- ●Insufficient sample volume
Compare With Similar Tests
| Test | Nx Gen Sequencing: Alexander Disease Test | MRI Brain | Targeted GFAP Gene Sequencing | Whole Exome Sequencing | Clinical Evaluation Only |
|---|---|---|---|---|---|
| Comparison | Nx Gen Sequencing: Alexander Disease Test |
Frequently Asked Questions
What is Alexander Disease?
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