FTSJ1 Gene Mental retardation, X-linked type 44 NGS Genetic Test
Short Name: FTSJ1 Gene NGS Test
Also known as: X-linked mental retardation type 44, FTSJ1-related intellectual disability
FTSJ1 Gene Mental retardation, X-linked type 44 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 Reports are available in 3 to 4 weeks from sample receipt.. 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 detect pathogenic variants in the FTSJ1 gene associated with Mental Retardation, X-linked type 44, and to aid clinicians in confirming diagnosis, guiding genetic counseling, and planning management for affected individuals.
- Test Code
- 4277
- CPT Code
- 81408
- ICD Code
- F70-F79
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are available in 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A clinical history and pedigree chart of family members affected with FTSJ1 mental retardation should be provided. Genetic counselling is recommended prior to the test.
Method: Blood draw, DNA extraction, or FTA card spot
Laboratory Analysis
Blood collection is performed by a trained phlebotomist. If using an FTA card, a few drops of blood are collected onto the card.
Report Delivery
No special precautions. You may resume normal activities immediately.
Timeline: Reports are available in 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic variants in the FTSJ1 gene associated with Mental Retardation, X-linked type 44, and to aid clinicians in confirming diagnosis, guiding genetic counseling, and planning management for affected individuals.
How to Prepare
- Orient the patient about the test purpose and process.
- Ensure the consent form is signed.
- Collect the sample using aseptic technique.
- Label the sample with patient ID and date.
- Transport the sample to the lab as per guidelines.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a specialist in Obstetrics and Gynecology, I recommend genetic counseling for families with a history of X-linked intellectual disabilities. Early diagnosis through NGS testing can guide management and reproductive planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labeled, clotted, or hemolyzed blood samples.
- Insufficient DNA quantity (less than 50 ng).
- Degraded DNA samples.
Understanding Your Results
No pathogenic variant detected
No disease-causing mutation was found in the FTSJ1 gene. The individual is negative for FTSJ1-associated mental retardation type 44, but other genetic causes are not excluded.
Pathogenic variant identified
A disease-causing mutation was found in the FTSJ1 gene, confirming the molecular diagnosis in symptomatic individuals.
Variant of uncertain significance (VUS)
A genetic variant was found whose clinical significance is unknown. Additional family studies and functional analysis may be needed.
If a child presents with developmental delay, intellectual disability, seizures, or if there is a known family history of X-linked intellectual disability, a physician or genetic counselor should be consulted.
Risks & Considerations
- ●Brief pain at the blood draw site
- ●Bruising or swelling
- ●Very rare infection
Frequently Asked Questions
What is the cost of the FTSJ1 Gene Mental Retardation X-linked Type 44 NGS Genetic Test?
What sample is required for this test?
How long does it take to get the report?
Is fasting required before the test?
Is home sample collection available?
Who should go for this genetic test?
What is the technology used for this test?
Will I receive raw data files with the report?
Is genetic counseling included?
What does a normal result mean?
Can females be carriers of this condition?
Is this test covered by insurance?
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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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