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CTDP1 Gene CMT4, CTDP1 Related NGS Genetic Test

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CTDP1 Gene CMT4, CTDP1 Related NGS Genetic Test

Short Name: CTDP1 NGS Genetic Test

Also known as: CTDP1 gene mutation analysis, CMT4 genetic test, CTDP1 NGS gene sequencing

CTDP1 Gene CMT4, CTDP1 Related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood / Extracted DNA / One drop blood on FTA Card samples. Results in Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestChildren, adolescents and adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this NGS test is to detect pathogenic or likely pathogenic sequence variants in the CTDP1 gene associated with CMT4, to support clinical diagnosis, carrier identification, genetic counselling and reproductive risk assessment.

Test Code
3966
ICD Code
G60.0
Price
₹20,000
Sample Type
Blood / Extracted DNA / One drop blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please attend a pre-test genetic counselling session and provide clinical history and a pedigree chart of family members affected with CTDP1-related CMT4.

Method: Venous blood draw / FTA blood spot / extracted DNA submission

Step 2

Laboratory Analysis

For blood samples, a standard venepuncture is done. For FTA cards, one drop of blood is spotted and dried. For extracted DNA, the laboratory-provided collection protocol should be followed.

Step 3

Report Delivery

There are no activity restrictions after sample collection. The sample will be transported to the laboratory, and reports are normally ready in 3 to 4 weeks.

Timeline: Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Complete pre-test genetic counselling with a neurologist or geneticist. No fasting is required. Clinical history and pedigree chart should be shared with the laboratory.
2
During the Test:A small blood sample is collected, or a blood spot is placed on an FTA card. Extracted DNA samples are submitted according to laboratory instructions.
3
After the Test:No special precautions are needed after the test. The sample is sent for NGS analysis and the report will be delivered in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS test is to detect pathogenic or likely pathogenic sequence variants in the CTDP1 gene associated with CMT4, to support clinical diagnosis, carrier identification, genetic counselling and reproductive risk assessment.

How to Prepare

  • For blood samples, use an EDTA tube
  • For FTA cards, apply one drop of blood and allow it to air dry
  • For extracted DNA, submit the DNA sample in a sterile collection vial
  • Label the sample tube with the patient name and unique identification number

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"In patients with clinical neuropathy and suspected autosomal recessive inheritance, CTDP1 genetic testing should be combined with genetic counselling to understand recurrence risk and family implications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / One drop blood on FTA Card
Sample VolumeOne drop on FTA card / as required for extracted DNA / 2-3 ml blood
ContainerEDTA tube / FTA card / DNA collection vial
Collection MethodVenous blood draw / FTA blood spot / extracted DNA submission

Sample Stability

Transport as per laboratory protocol
Stable for shipment and storage
As per laboratory protocol
Sample Rejection Criteria:
  • Clotted or haemolysed EDTA blood sample
  • Inadequate DNA quantity or quality
  • Improperly dried or poorly labelled FTA card
  • Sample without complete clinical history or test request form

Understanding Your Results

Results should be interpreted by a clinical geneticist in the context of the clinical signs, nerve conduction study findings and family history.
Pathogenic or likely pathogenic variant in CTDP1 confirms the genetic diagnosis of CMT4 when the clinical phenotype is consistent.
No pathogenic variant detected reduces the likelihood of CTDP1-related CMT4 but does not fully exclude the diagnosis in a highly suspicious clinical setting.
A variant of uncertain significance is not diagnostic and requires further evaluation, including family segregation studies.
⚠️ When to Consult a Doctor:

If you or your child have progressive foot weakness, sensory loss, foot deformities, hammertoes, difficulty walking, or problems with fine motor skills, consult a neurologist. If CMT4 is suspected or confirmed, genetic counselling is recommended for family planning and carrier testing.

Limitations

  • ⚠Targeted CTDP1 NGS may not detect large deletions, duplications, deep intronic variants, or structural rearrangements unless specifically analysed
  • ⚠A negative result does not completely exclude CTDP1-related CMT4 if clinical suspicion remains high
  • ⚠Variants of uncertain significance may require additional family segregation studies

Risks & Considerations

  • ●No significant physical risk beyond routine blood sampling
  • ●Psychological impact of positive, carrier or uncertain results
  • ●Potential implications for other family members and reproductive decisions

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination or sample mix-up
  • ●Mutations in non-CTDP1 genes causing a similar clinical phenotype

Frequently Asked Questions

What is the CTDP1 gene CMT4 NGS genetic test?
It is a targeted next-generation sequencing test that reads the CTDP1 gene to identify mutations associated with Charcot-Marie-Tooth disease type 4 (CMT4).
How much does this test cost in India?
The test costs Rs 20,000 at DNA Labs India. Free home sample collection is available for online bookings in selected cities.
What sample is required for the CTDP1 NGS genetic test?
The test can be done on venous blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before this test?
No, fasting is not required for this CTDP1 genetic test.
How long does it take to get the test report?
The report is usually available in 3 to 4 weeks after the sample reaches the laboratory.
Who should take this CTDP1 genetic test?
People with clinical features of CMT4, family history of CTDP1-related CMT, couples with reproductive risk, or individuals needing carrier testing after genetic counselling may take this test.
Can this test detect CMT4 carriers?
Yes, it can identify carriers of CTDP1 mutations who may be at risk of passing the condition to their children.
Can this test confirm a diagnosis of CMT4?
A pathogenic variant in the CTDP1 gene confirms the genetic diagnosis in a clinically affected individual. However, the result must be interpreted by a qualified geneticist along with clinical findings.
Does this test cover all other CMT genes?
No, this is a CTDP1-targeted NGS test. If CMT due to other genes is suspected, a broader CMT gene panel or whole exome sequencing may be needed.
What does a negative CTDP1 genetic test result mean?
A negative result means no pathogenic variant was detected in the CTDP1 gene. It reduces the likelihood of CTDP1-related CMT4 but does not completely exclude it if clinical suspicion remains high.
Is genetic counselling needed before the test?
Yes, a genetic counselling session is required before the test to draw a family pedigree, discuss implications and ensure informed consent.
Is home sample collection available across India?
Yes, free home sample collection is available for online bookings in several major cities across India. Please check with DNA Labs India to confirm availability in your city.
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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