PRPS1 Gene CMTX5 NGS Genetic Test
Short Name: PRPS1 CMTX5 NGS Test
Also known as: CMTX5 Genetic Test, PRPS1 Gene Mutation Analysis, Hereditary Neuropathy PRPS1 Gene Test
PRPS1 Gene CMTX5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation for identified variants on Blood or Extracted DNA or Dried Blood on FTA Card samples. Results in Reports are generally available within 3 to 4 weeks from the date the sample is received 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
To confirm the diagnosis of CMTX5 by identifying pathogenic variants in the PRPS1 gene and to provide an accurate basis for genetic counselling, clinical management, and family risk assessment.
- Test Code
- 3976
- CPT Code
- 81401
- ICD Code
- G60.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or Dried Blood on FTA Card
- Result Time
- Reports are generally available within 3 to 4 weeks from the date the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger confirmation for identified variants
Sample Collection
No fasting is required. Inform your clinician about any anticoagulant medications or recent blood transfusions.
Method: Venipuncture or Finger-prick
Laboratory Analysis
A blood sample is drawn from a vein, or a finger-prick blood spot is placed on a FTA card. The procedure is quick and low-risk.
Report Delivery
You can resume normal activities immediately. The sample will be sent to the laboratory for genetic analysis.
Timeline: Reports are generally available within 3 to 4 weeks from the date the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To confirm the diagnosis of CMTX5 by identifying pathogenic variants in the PRPS1 gene and to provide an accurate basis for genetic counselling, clinical management, and family risk assessment.
How to Prepare
- Blood sample should be collected in an EDTA Vacutainer.
- If using FTA card, one blood spot of sufficient size is required.
- Ensure the sample is labelled with full name and date of birth.
- Extracted DNA should be provided in 10 mM Tris-EDTA buffer or as per laboratory instructions.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"CMTX5 often presents with early-onset sensorineural hearing loss and progressive peripheral neuropathy. Molecular confirmation is vital for early intervention and genetic counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed blood sample
- Clotted blood sample if DNA extraction is required
- Incorrectly labelled sample or mismatched patient details
- Inadequate sample volume or insufficient dried blood spot
- Sample received in citrate or Heparin tube (not ideal for NGS)
Understanding Your Results
If you experience progressive limb weakness, numbness, hearing loss, or have a family history of Charcot-Marie-Tooth disease, consult a neurologist or genetic counsellor to determine whether PRPS1 gene testing is appropriate.
Limitations
- ⚠This test specifically evaluates the PRPS1 gene coding regions and splice junctions; it may not detect large deletions, duplications, or deep intronic variants.
- ⚠A negative result does not completely exclude CMTX5 if clinical suspicion is high; additional testing such as whole-exome sequencing may be considered.
- ⚠Variant classification may require additional familial segregation analysis.
- ⚠The test is not intended for prenatal or newborn screening unless specified by a specialist.
Risks & Considerations
- ●Slight pain or bruising at the blood draw site
- ●Dizziness or faintness during collection
- ●Rare risk of infection at venipuncture site
Interfering Factors
- ●Hematological malignancies leading to abnormal white blood cell DNA
- ●Recent blood transfusion causing mixed DNA profile
- ●Inadequate DNA quantity or poor quality
- ●Bone marrow transplantation (may alter germline testing results)
- ●Mosaic variants below NGS detection threshold
Compare With Similar Tests
| Test | PRPS1 Gene CMTX5 NGS Genetic Test | PRPS1 Gene CMTX5 NGS Test | Charcot-Marie-Tooth NGS Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | PRPS1 Gene CMTX5 NGS Genetic Test |
Frequently Asked Questions
What is CMTX5?
What is the cost of the PRPS1 Gene CMTX5 NGS Genetic Test?
What kind of sample is required?
Do I need to fast before this test?
How long will the test take to report?
Will I receive raw data files along with the report?
Is home sample collection available?
Who should order this test?
What does a negative result mean?
Can CMTX5 be cured?
Is this test covered by insurance?
Do I need genetic counselling before or after the test?
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