Skip to main content
DNA Labs India

KDM5C Gene Mental retardation X-linked, syndromic, Claes-Jensen type NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

KDM5C Gene Mental retardation X-linked, syndromic, Claes-Jensen type NGS Genetic Test

Short Name: KDM5C Gene NGS Test

Also known as: KDM5C gene mutation analysis, X-linked syndromic mental retardation Claes-Jensen type genetic test, KDM5C Next Generation Sequencing test

KDM5C Gene Mental retardation X-linked, syndromic, Claes-Jensen type 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 from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To detect pathogenic sequence variants in the KDM5C gene associated with X-linked syndromic mental retardation, Claes-Jensen type, and to confirm a clinical diagnosis for appropriate management and genetic counseling.

Test Code
4218
ICD Code
F70-F79, Q87.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or special preparation is required. A referral note and detailed clinical history are helpful. The patient must receive pre-test genetic counseling.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

For blood collection, a sterile venipuncture will be performed; alternatively, an FTA card blood spot is collected. Ensure the sample is labeled correctly.

Step 3

Report Delivery

No specific post-collection restrictions. The sample should be transported to the laboratory within the specified time.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:A referral from a physician is preferred. Genetic counseling session will be arranged to draw a pedigree chart and discuss the implications of the test.
2
During the Test:A blood sample (or FTA card blood spot) is collected. The sample is sent to the laboratory, where NGS sequencing of the KDM5C gene is performed.
3
After the Test:Results will be provided 3 to 4 weeks after sample receipt. Post-test genetic counseling is recommended to explain the findings and their impact on patient care and family planning.

About This Test

Who Should Get This Test

To detect pathogenic sequence variants in the KDM5C gene associated with X-linked syndromic mental retardation, Claes-Jensen type, and to confirm a clinical diagnosis for appropriate management and genetic counseling.

How to Prepare

  • Wear loose-fitting clothing for venipuncture.
  • Inform the healthcare provider of any bleeding disorders or anticoagulant use.
  • If using FTA card, allow the blood spot to air dry completely before packing.
  • Keep the sample at room temperature or refrigerate as advised by the lab.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Testing for KDM5C gene variants is essential for providing an accurate molecular diagnosis and enabling informed reproductive and family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Whole blood in EDTA: 24–48 hours at room temperature; up to 7 days at 2–8°C
FTA card blood spot: stable for several years at room temperature
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrectly labeled sample
  • Sample in a non-approved container
  • FTA card with insufficient blood spot or multiple layering
  • Samples received beyond the stability window

Understanding Your Results

The clinical interpretation of KDM5C variants follows the American College of Medical Genetics and Genomics (ACMG) guidelines. The report should be reviewed alongside the patient's clinical phenotype and family history.
📊

Pathogenic or likely pathogenic variant detected

Confirms the molecular diagnosis of KDM5C-related X-linked syndromic mental retardation. Allows targeted management, carrier testing, and prenatal testing.

📊

Variant of uncertain significance (VUS) detected

Cannot confirm or exclude diagnosis. Additional familial segregation analysis and functional studies may be recommended.

📊

No pathogenic variants detected

Reduces but does not eliminate the likelihood of KDM5C-related syndrome. Consider alternative genetic causes or broader gene panel testing.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, neurologist, or obstetrician if you have a family history of X-linked intellectual disability, unexplained developmental delay in a child, or if you are planning a pregnancy and are at risk of transmitting a KDM5C mutation.

Limitations

  • ⚠This NGS test may not detect large genomic deletions/duplications; additional methods such as MLPA or chromosomal microarray may be required.
  • ⚠Variants in non-coding regulatory regions not covered by the assay may be missed.
  • ⚠Variants of uncertain significance may require further functional studies and family segregation analysis.
  • ⚠A negative result does not exclude alternative genetic causes of intellectual disability.

Risks & Considerations

  • ●Minor pain, bruising, or bleeding at the venipuncture site
  • ●Dizziness or fainting during the blood draw
  • ●Psychological distress upon receiving test results

Interfering Factors

  • ●Poor DNA quality from degraded or improperly stored samples
  • ●Contamination with maternal cells
  • ●Inadequate coverage of certain regions due to technical limitations
  • ●Presence of homologous pseudogenes or complex structural variants

Compare With Similar Tests

TestKDM5C Gene Mental retardation X-linked, syndromic, Claes-Jensen type NGS Genetic Test
ComparisonKDM5C Gene Mental retardation X-linked, syndromic, Claes-Jensen type NGS Genetic Test

Frequently Asked Questions

What is the KDM5C gene test?
The KDM5C gene test is a Next-Generation Sequencing test that analyzes the KDM5C gene for mutations that cause X-linked syndromic mental retardation, Claes-Jensen type.
What is Claes-Jensen type X-linked mental retardation?
It is a rare genetic disorder caused by mutations in the KDM5C gene, characterized by intellectual disability, speech delay, behavioral problems, and distinct facial features.
Who should undergo this genetic test?
Individuals with unexplained intellectual disability, developmental delay, speech impairment, or a family history of X-linked mental retardation may benefit from this test.
What is the cost of the KDM5C gene test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection included.
What type of sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are usually available in 3 to 4 weeks.
Is there any special preparation required?
No fasting is needed. However, pre-test genetic counseling is recommended to explore family history and test implications.
Will I receive raw data files?
Yes, DNA Labs India provides raw data files (FASTQ and VCF) along with the clinical test report.
What does a pathogenic variant in KDM5C mean?
A pathogenic variant confirms the molecular diagnosis and helps in providing accurate genetic counseling and recurrence risk assessment.
How can I book an appointment for home sample collection?
You can book online through our website DNA Labs India, and our team will schedule a free home sample collection at your convenience.
Is the KDM5C gene test covered by insurance?
Most health insurance schemes do not cover this test. You may check with your private insurer, but it is typically not covered under government schemes.
What if a variant of uncertain significance is found?
If a VUS is found, additional family studies and functional analysis may be recommended to clarify its role. Genetic counseling will guide you through the process.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
For Hospitals & Clinics

Reference Laboratory Services

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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ 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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.