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CPT1B Gene Carnitine palmitoyltransferase 1B deficiency NGS Genetic Test

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CPT1B Gene Carnitine palmitoyltransferase 1B deficiency NGS Genetic Test

Short Name: CPT1B Deficiency NGS Test

Also known as: CPT1B Deficiency, CPT I Deficiency, Carnitine Palmitoyltransferase 1B Deficiency NGS Test

CPT1B Gene Carnitine palmitoyltransferase 1B deficiency 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.

Genetic Test🏠 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

To accurately diagnose CPT1B Gene Carnitine Palmitoyltransferase 1B deficiency using advanced NGS technology, enabling early intervention and treatment planning.

Test Code
1894
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

Genetic counseling session recommended to discuss family history and test implications.

Method: Venipuncture or fingerprick

Step 2

Laboratory Analysis

Simple collection of blood or saliva sample by a trained professional.

Step 3

Report Delivery

Sample is securely transported to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Understand the test purpose, discuss with a genetic counselor, and provide informed consent.
2
During the Test:Sample collection is quick, typically taking a few minutes, with minimal discomfort.
3
After the Test:Results are delivered online in 3-4 weeks. Follow up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

To accurately diagnose CPT1B Gene Carnitine Palmitoyltransferase 1B deficiency using advanced NGS technology, enabling early intervention and treatment planning.

How to Prepare

  • Avoid eating or drinking for 30 minutes before saliva collection
  • For blood collection, no special preparation is required
  • Follow instructions provided by the collection team

Doctor's Notes

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

"Genetic testing is crucial for early diagnosis and management of CPT1B deficiency, especially in families with a history of metabolic disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or fingerprick

Sample Stability

Blood sample stable at room temperature for up to 24 hours
FTA card samples are stable for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling or contamination

Understanding Your Results

Results indicate the presence or absence of mutations in the CPT1B gene, helping diagnose Carnitine palmitoyltransferase 1B deficiency.
📊

Positive

Pathogenic mutation detected in CPT1B gene, confirming deficiency. Consult a geneticist for management.

📊

Negative

No pathogenic variants detected, reducing likelihood of CPT1B deficiency. Correlate with clinical symptoms.

📊

Variant of Uncertain Significance (VUS)

Mutation identified but significance unclear. Further testing and monitoring may be needed.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if experiencing symptoms like muscle weakness or low blood sugar, or if there is a family history of metabolic disorders.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may vary based on sample quality

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Emotional stress related to genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Recent blood transfusion

Compare With Similar Tests

TestCPT1B Gene Carnitine palmitoyltransferase 1B deficiency NGS Genetic Test
ComparisonCPT1B Gene Carnitine palmitoyltransferase 1B deficiency NGS Genetic TestCovers all genes, while CPT1B test is targeted.Detects metabolic abnormalities but not specific genetic mutations.Tests a different gene involved in fatty acid metabolism.Measures metabolic byproducts, not genetic variants.

Frequently Asked Questions

What is CPT1B Gene Carnitine palmitoyltransferase 1B deficiency?
It is a rare genetic disorder affecting fat metabolism due to mutations in the CPT1B gene, leading to symptoms like muscle weakness and low blood sugar.
How is CPT1B deficiency diagnosed?
Diagnosis involves blood tests, muscle biopsies, and genetic testing, with NGS being the most accurate method.
What does the NGS Genetic Test involve?
It requires a blood or saliva sample analyzed using next-generation sequencing to detect CPT1B gene mutations.
What is the cost of the test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is fasting required for this test?
No, fasting is not required for the CPT1B NGS Genetic Test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of CPT1B deficiency?
Symptoms include muscle weakness, low blood sugar, liver problems, enlarged liver, muscle pain, and in severe cases, seizures or coma.
Can this test be done at home?
Yes, free home sample collection is offered for online bookings across India.
Who should consider this test?
Individuals with symptoms of metabolic disorders or a family history of CPT1B deficiency should consider testing.
Is genetic counseling recommended?
Yes, a genetic counseling session is recommended before and after the test to discuss results and implications.
What if the test result is positive?
A positive result confirms CPT1B deficiency, and you should consult a geneticist or healthcare provider for management options.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but emotional impacts of results should be discussed with a counselor.
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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