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NEK1 Gene Short-rib thoracic dysplasia type 6 with or without polydactyly NGS Genetic Test

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NEK1 Gene Short-rib thoracic dysplasia type 6 with or without polydactyly NGS Genetic Test

Short Name: NEK1 SRTD6 NGS Test

Also known as: SRTD6, NEK1-related skeletal dysplasia

NEK1 Gene Short-rib thoracic dysplasia type 6 with or without polydactyly 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. Free home collection in 300+ cities across India.

Pediatrics🏠 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 test is to detect mutations in the NEK1 gene to confirm diagnosis of short-rib thoracic dysplasia type 6, assess genetic risk, and inform clinical management and genetic counseling for affected individuals and families.

Test Code
2812
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart. No specific preparation required, but ensure sample integrity.

Method: Venipuncture or FTA card

Step 2

Laboratory Analysis

A small blood sample or saliva is collected by a trained phlebotomist. For FTA card, one drop of blood is applied.

Step 3

Report Delivery

Sample is sent to the laboratory for analysis. Results are available in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection is quick and minimally invasive.
3
After the Test:Results are delivered online, and follow-up counseling is advised for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the NEK1 gene to confirm diagnosis of short-rib thoracic dysplasia type 6, assess genetic risk, and inform clinical management and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • Use sterile collection tubes or FTA cards as specified
  • Transport sample at ambient room temperature

Doctor's Notes

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

"This NGS test is essential for confirming diagnosis of NEK1-related short-rib thoracic dysplasia, enabling early intervention and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA card
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect sample type or container

Understanding Your Results

Results indicate the presence or absence of mutations in the NEK1 gene. A positive result confirms diagnosis of short-rib thoracic dysplasia type 6, while a negative result may require further testing.
Positive: Pathogenic variant detected – confirms diagnosis, guide management and counseling
Negative: No pathogenic variant detected – does not exclude other genetic causes
Variant of uncertain significance (VUS): Requires clinical correlation and family studies
⚠️ When to Consult a Doctor:

Consult a genetic specialist or pediatrician if symptoms such as short stature, respiratory issues, or polydactyly are present, or if there is a family history of skeletal dysplasia.

Limitations

  • ⚠May not detect all types of genetic variations, such as large deletions or duplications
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other genetic disorders with similar symptoms

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Potential emotional impact of genetic results
  • ●Risk of uncertain results requiring further investigation

Frequently Asked Questions

What is NEK1 gene short-rib thoracic dysplasia type 6?
It is a rare genetic disorder caused by mutations in the NEK1 gene, leading to abnormal bone development, short stature, narrow chest, and sometimes polydactyly.
What are the common symptoms of this disorder?
Symptoms include short stature, respiratory problems due to narrow chest, extra fingers or toes (polydactyly), scoliosis, and abnormal bone growth in limbs and ribs.
How is the NEK1 gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood or saliva sample for mutations in the NEK1 gene.
What is the cost of this genetic test?
The test costs INR 20000, with home sample collection available across India at no additional charge.
Is the test covered by insurance?
Yes, it is covered by most major insurance providers. Check with your insurer for specific coverage details.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
Who should consider getting this test?
Individuals with symptoms of short-rib thoracic dysplasia, a family history of the disorder, or prenatal findings suggestive of skeletal dysplasia.
What do the test results mean?
A positive result confirms a diagnosis, while a negative result may indicate no mutation or require further testing. Genetic counseling is recommended for interpretation.
Are there any risks associated with the test?
The test involves minimal physical risks from blood draw. There may be emotional impacts from results, and genetic counseling is advised.
How accurate is the NEK1 gene test?
The NGS technology provides high accuracy in detecting mutations, but results should be correlated with clinical findings by a specialist.
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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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.

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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.

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