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YARS1 Gene DI-CMTC NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

YARS1 Gene DI-CMTC NGS Genetic Test

Short Name: YARS1 DI-CMTC NGS

Also known as: YARS1 Gene CMT Test, Dominant Intermediate CMT Genetic Test, YARS1 Peripheral Neuropathy NGS Test

YARS1 Gene DI-CMTC NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks after sample receipt. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect clinically significant variants in the YARS1 gene that cause Dominant Intermediate Charcot-Marie-Tooth type C (DI-CMTC). It supports clinicians in confirming a diagnosis, enabling early intervention, and facilitating cascade testing of at-risk family members.

Test Code
4010
ICD Code
G60.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after sample receipt
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. There are no specific dietary or medication restrictions. Your neurologist or genetic counsellor will explain the purpose, benefits, and limitations of this genetic test before sample collection.

Method: Peripheral blood draw, FTA blood spot, or extracted DNA submission

Step 2

Laboratory Analysis

A simple blood draw, FTA card blood spot, or extracted DNA sample will be collected by a trained phlebotomist using sterile equipment.

Step 3

Report Delivery

No specific aftercare is needed. You may resume normal activities immediately. The laboratory will process the sample and share the report electronically when ready.

Timeline: 3 to 4 weeks after sample receipt

Patient Instructions

1
Before the Test:No specific preparation is required. Discuss the need for genetic counseling with your doctor if you have a family history of peripheral neuropathy.
2
During the Test:Sample collection is quick and minimally invasive. You may feel a slight pinch during blood draw, but it is generally well tolerated.
3
After the Test:You can return to normal activities. The laboratory will process the sample and share results electronically within the promised turnaround time.

About This Test

Who Should Get This Test

The purpose of this test is to detect clinically significant variants in the YARS1 gene that cause Dominant Intermediate Charcot-Marie-Tooth type C (DI-CMTC). It supports clinicians in confirming a diagnosis, enabling early intervention, and facilitating cascade testing of at-risk family members.

How to Prepare

  • For blood: Collect 2-3 ml in an EDTA vacutainer
  • For FTA card: Apply one drop of venous blood onto the marked circle and air dry
  • For extracted DNA: Use a sterile, DNase-free tube and provide at least 1 microgram DNA
  • Label the sample tube/card clearly with the patient's name, date of birth, and collection date

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic confirmation of DI-CMTC helps in accurate prognosis, family counseling, and appropriate management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood / 1 FTA card spot / 1 microgram DNA
ContainerEDTA Vacutainer / FTA Card / sterile DNA tube
Collection MethodPeripheral blood draw, FTA blood spot, or extracted DNA submission

Sample Stability

EDTA blood: stable at 4-8°C for 7 days
FTA card: stable at room temperature for several months
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Insufficient sample quantity
  • Improper labeling or missing patient details
  • Sample received in heparin tube instead of EDTA
  • FTA card with mould or contamination

Understanding Your Results

The genetic laboratory will interpret findings based on an established variant curation framework. The report will state whether any pathogenic or likely pathogenic variants were identified in the YARS1 gene. When a variant is found, its clinical significance will be described in the report, along with recommendations for family screening.
Pathogenic / Likely pathogenic variant in YARS1: Confirms the clinical diagnosis of DI-CMTC and supports family cascade testing
Variant of uncertain significance (VUS): Requires additional segregation analysis and clinical correlation
No pathogenic variant identified: Reduces but does not completely exclude a genetic diagnosis; other CMT genes may be involved
⚠️ When to Consult a Doctor:

If your report shows a pathogenic variant in YARS1 or a variant of uncertain significance, consult a clinical geneticist or neurologist for personalised medical advice and family risk assessment.

Limitations

  • ⚠This NGS test detects single-nucleotide variants and small insertions/deletions in the YARS1 coding and flanking regions
  • ⚠Large genomic rearrangements, deep intronic variants, or structural variants may not be detected
  • ⚠Variants of uncertain significance may require further family studies and functional analysis
  • ⚠A negative result does not exclude CMT caused by variants in other genes
  • ⚠This test does not evaluate mitochondrial DNA mutations

Risks & Considerations

  • ●Mild pain or bruising at blood collection site
  • ●Rare local infection
  • ●Feeling of light-headedness during blood draw

Interfering Factors

  • ●Recent allogeneic blood transfusion may cause mixed DNA results
  • ●Bone marrow transplantation can alter germline genetic results
  • ●Poor DNA quality or degradation due to high temperature
  • ●Contamination during FTA card handling
  • ●Incorrect sample labelling or sample mix-up

Frequently Asked Questions

What is DI-CMTC?
DI-CMTC stands for Dominant Intermediate Charcot-Marie-Tooth disease, a hereditary motor and sensory neuropathy caused by variants in the YARS1 gene. It is characterized by muscle weakness, sensory loss, and reduced nerve conduction velocities.
Which symptoms indicate the need for this test?
Common symptoms include weakness of the hands and feet, walking difficulty, numbness or tingling in the limbs, reduced muscle bulk, and abnormal nerve conduction study results.
What sample can I provide for testing?
You can provide 2-3 ml of peripheral blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before sample collection?
No, fasting is not required for this genetic test.
How much does the YARS1 gene test cost at DNA Labs India?
The test is priced at INR 20,000, including home sample collection, NGS analysis, clinical report, and raw FASTQ/VCF files.
How long will the results take?
Reports are usually issued within 3 to 4 weeks after the laboratory receives the sample.
Can this test detect all CMT-causing YARS1 mutations?
NGS-based testing detects single-nucleotide variants and small insertions/deletions in the coding and splice-site regions. Large rearrangements or deep intronic mutations may not be captured; Sanger confirmation is used for positive findings.
Who should consider this test?
Patients with clinical features of peripheral neuropathy, a family history of CMT, or electrophysiological findings suggestive of an intermediate form may consider this test.
Is genetic counseling recommended?
Yes, pre-test and post-test genetic counseling is strongly recommended to discuss the implications of the result and construct a family pedigree.
Will I receive raw data?
Yes, DNA Labs India provides transparent reporting and shares FASTQ and VCF files along with the clinical report.
Can home sample collection be scheduled?
Yes, a free home sample collection is available for online bookings across major cities in India.
What does a positive result mean?
A positive result identifies a pathogenic or likely pathogenic variant in the YARS1 gene, confirming the clinical diagnosis of DI-CMTC and enabling targeted family testing.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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