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KIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic Test

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KIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic Test

Short Name: KIF1BP GOSHS NGS Test

Also known as: GOSHS, Goldberg-Shprintzen Syndrome

KIF1BP Gene Goldberg-Shprintzen megacolon syndrome 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.

Next-Generation Sequencing (NGS)Pediatric🏠 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 identify mutations in the KIF1BP gene for the diagnosis of Goldberg-Shprintzen Megacolon Syndrome (GOSHS), enabling accurate clinical management and genetic counseling.

Test Code
2734
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 as per pre-test requirements.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample sent to laboratory for NGS analysis; results available in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and clinical history review are recommended before testing.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Results interpretation by a genetic counselor and discussion with healthcare provider.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the KIF1BP gene for the diagnosis of Goldberg-Shprintzen Megacolon Syndrome (GOSHS), enabling accurate clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile collection equipment
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

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

"This test is essential for confirming GOSHS, 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
Sample Volume3-5 mL for blood
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Blood: 7 days at 2-8°C
FTA Card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrect labeling
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the KIF1BP gene. Positive results confirm GOSHS diagnosis, while negative results may require further clinical evaluation.
Positive: Pathogenic variant detected, consistent with GOSHS.
Negative: No pathogenic variants detected; consider other diagnoses.
Variant of uncertain significance (VUS): Requires further investigation and genetic counseling.
⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms suggestive of GOSHS are present, or after receiving test results for management and counseling.

Limitations

  • ⚠May not detect all types of genetic variants (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Potential psychological impact of genetic results
  • ●Risk of incidental findings

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection or processing
  • ●Insufficient DNA quantity

Compare With Similar Tests

TestKIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic TestWhole Exome SequencingSanger Sequencing
ComparisonKIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic Test

Frequently Asked Questions

What is Goldberg-Shprintzen Megacolon Syndrome (GOSHS)?
GOSHS is a rare genetic disorder caused by mutations in the KIF1BP gene, leading to symptoms like megacolon, intellectual disability, scoliosis, and brain abnormalities.
What does the KIF1BP Gene NGS Genetic Test involve?
It uses next-generation sequencing to analyze the KIF1BP gene for mutations, helping diagnose GOSHS accurately.
Who should consider this test?
Individuals with symptoms of GOSHS, such as colon abnormalities, intellectual disability, or a family history of the syndrome.
What is the cost of the test in India?
The test costs INR 20000, with home sample collection available across India.
How is the sample collected?
A blood sample is collected via venipuncture, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Positive results indicate a pathogenic mutation in KIF1BP, confirming GOSHS. Negative results may require further evaluation.
Is home sample collection available?
Yes, free home collection is offered for online bookings in many cities across India.
Are there any risks associated with the test?
Risks are minimal, such as slight discomfort from blood draw, but genetic results may have psychological implications.
Can this test be used for prenatal diagnosis?
It is primarily for postnatal diagnosis; consult a genetic counselor for prenatal options.
How can I book the test?
Book online through DNA Labs India's website or contact their customer service for assistance.
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.

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.

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