RXYLT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 NGS Genetic Test
Short Name: RXYLT1 MDDGA10 NGS Test
Also known as: Muscular Dystrophy-Dystroglycanopathy Type A10, MDDGA10, RXYLT1 Congenital Muscular Dystrophy
RXYLT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from receipt of sample.. 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 primary purpose of this test is to detect pathogenic variants in the RXYLT1 gene that cause muscular dystrophy-dystroglycanopathy type A10, confirming the clinical diagnosis and enabling genetic counseling and prenatal evaluation.
- Test Code
- 4356
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from receipt of sample.
- Fasting Required
- No
- Method
- Next-Generation Sequencing
Sample Collection
No fasting is required. A clinician's referral and clinical history are recommended. Genetic counseling before testing is advised to discuss the implications.
Method: Peripheral blood draw or FTA card spot
Laboratory Analysis
Peripheral blood sample will be collected in an EDTA vacutainer by a trained phlebotomist. FTA card spot can be collected by a simple finger prick.
Report Delivery
The sample should be labeled and transported to the laboratory as per provided instructions. No specific precautions required.
Timeline: 3 to 4 weeks from receipt of sample.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to detect pathogenic variants in the RXYLT1 gene that cause muscular dystrophy-dystroglycanopathy type A10, confirming the clinical diagnosis and enabling genetic counseling and prenatal evaluation.
How to Prepare
- No special preparation such as fasting is needed.
- Complete a genetic counseling session to draw a pedigree chart as necessary.
- Bring a doctor's prescription/referral if available.
- Informed consent for genetic testing should be signed.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counseling before and after testing is essential to understand inheritance, recurrence risks, and available management options for families affected by this rare condition."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labeled specimen
- Clotted blood in EDTA tube
- Hemolyzed sample
- Sample received after prolonged transit without cold chain
- Insufficient quantity
Understanding Your Results
Consult a neurologist or medical geneticist if there are signs of congenital muscle weakness, developmental delay, seizures, or eye anomalies, or if there is a family history of muscular dystrophy-dystroglycanopathy.
Limitations
- ⚠This test covers coding exons and splice junctions of the RXYLT1 gene.
- ⚠It may not detect large gene deletions, duplications, or complex rearrangements.
- ⚠Variants in regulatory regions or deep intronic regions will not be identified.
- ⚠A negative result does not entirely exclude the condition if clinical suspicion remains high.
Risks & Considerations
- ●Minimal risk of bruising or hematoma at the blood draw site
- ●Possible dizziness or vasovagal reaction during blood collection
Interfering Factors
- ●Presence of maternal cell contamination in fetal or cord blood samples
- ●Low-quality DNA (degraded or insufficient quantity)
- ●Very deep intronic variants or large structural rearrangements not detected by this targeted NGS approach
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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